(Q42786688)

English

VHL N131K (c.393C>A)

genetic variant

N131K (c.393C>A)
C.393C>A
ASN131LYS
RS1064794272

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No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

10188250

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

10188250

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NM_000551.3:c.393C>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

NP_000542.1:p.Asn131Lys

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

NC_000003.11:g.10188250C>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

ENST00000256474.2:c.393C>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1953

Sitelinks

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