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VHL Y175C (c.524A>G)
genetic variant
Y175C (c.524A>G)
C.524A>G
TYR175CYS
RS193922613
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
chromosome
human chromosome 3
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
genomic start
10191531
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
genomic end
10191531
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
biological variant of
VHL
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
Identifiers
CIViC variant ID
2067
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
dbSNP Reference SNP number
rs193922613
1 reference
stated in
CIViC database
HGVS nomenclature
NM_000551.3:c.524A>G
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
NP_000542.1:p.Tyr175Cys
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
NC_000003.11:g.10191531A>G
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
ENST00000256474.2:c.524A>G
1 reference
stated in
CIViC database
retrieved
25 February 2022
reference URL
https://civic.genome.wustl.edu/links/variants/2067
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