Canonical Allele Identifier: CA310942949
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs765019311
gnomAD v3: 20-3082716-C-A
gnomAD v4: 20-3082716-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082716C>A , CM000682.2:g.3082716C>A GRCh38
NC_000020.10:g.3063362C>A , CM000682.1:g.3063362C>A GRCh37
NC_000020.9:g.3011362C>A NCBI36
NG_008663.1:g.7009G>T , LRG_715:g.7009G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.409G>T MANE Select ENSP00000369647.3:p.Gly137Trp
NM_000490.4:c.409G>T , LRG_715t1:c.409G>T NP_000481.2:p.Gly137Trp
XM_011529267.1:c.409G>T XP_011527569.1:p.Gly137Trp
XM_011529267.2:c.409G>T XP_011527569.1:p.Gly137Trp
NM_000490.5:c.409G>T MANE Select NP_000481.2:p.Gly137Trp