(Q42786632)

English

VHL S80N (c.239G>A)

genetic variant

S80N (c.239G>A)
C.239G>A
SER80ASN
RS5030805

In more languages

default values for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

10183770

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

10183770

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.239G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

NC_000003.11:g.10183770G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

NM_000551.3:c.239G>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

NP_000542.1:p.Ser80Asn

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1874

Sitelinks

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Multilingual sites(0 entries)

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