(Q32965762)

English

VHL N78H (c.232A>C)

genetic variant

N78H (c.232A>C)
ASN78HIS
C.232A>C

In more languages

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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/1754

human chromosome 3

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

10183763

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

10183763

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000256474.2:c.232A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

NC_000003.11:g.10183763A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

NM_000551.3:c.232A>C

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

NP_000542.1:p.Asn78His

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/1754

Sitelinks

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