Canonical Allele Identifier: CA9739420
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 3132418
ClinVar RCV Id: RCV004421346
dbSNP Id: rs765019311
gnomAD v2: 20-3063362-C-T
gnomAD v4: 20-3082716-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.409G>A MANE Select ENSP00000369647.3:p.Gly137Arg
NM_000490.4:c.409G>A , LRG_715t1:c.409G>A NP_000481.2:p.Gly137Arg
XM_011529267.1:c.409G>A XP_011527569.1:p.Gly137Arg
XM_011529267.2:c.409G>A XP_011527569.1:p.Gly137Arg
NM_000490.5:c.409G>A MANE Select NP_000481.2:p.Gly137Arg