(Q32965770)

English

VHL N78T (c.233A>C)

genetic variant

N78T (c.233A>C)
ASN78THR
C.233A>C
RS5030804

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No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

10183764

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

10183764

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000551.3:c.233A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

NP_000542.1:p.Asn78Thr

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

NC_000003.11:g.10183764A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

ENST00000256474.2:c.233A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1756

Sitelinks

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