Canonical Allele Identifier: CA121977
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 12220
ClinVar RCV Id: RCV000013004 RCV001701566
dbSNP Id: rs74315383
MyVariant Identifiers: chr20:g.3063425A>C (hg19) chr20:g.3082779A>C (hg38)
PubMed: PMID:11017955 PMID:11443218
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082779A>C , CM000682.2:g.3082779A>C GRCh38
NC_000020.10:g.3063425A>C , CM000682.1:g.3063425A>C GRCh37
NC_000020.9:g.3011425A>C NCBI36
NG_008663.1:g.6946T>G , LRG_715:g.6946T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.346T>G MANE Select ENSP00000369647.3:p.Cys116Gly
NM_000490.4:c.346T>G , LRG_715t1:c.346T>G NP_000481.2:p.Cys116Gly
XM_011529267.1:c.346T>G XP_011527569.1:p.Cys116Gly
XM_011529267.2:c.346T>G XP_011527569.1:p.Cys116Gly
NM_000490.5:c.346T>G MANE Select NP_000481.2:p.Cys116Gly
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