Canonical Allele Identifier: CA509404137
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1380468503
gnomAD v3: 20-3082717-G-A
gnomAD v4: 20-3082717-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082717G>A , CM000682.2:g.3082717G>A GRCh38
NC_000020.10:g.3063363G>A , CM000682.1:g.3063363G>A GRCh37
NC_000020.9:g.3011363G>A NCBI36
NG_008663.1:g.7008C>T , LRG_715:g.7008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.408C>T MANE Select ENSP00000369647.3:p.Asp136=
NM_000490.4:c.408C>T , LRG_715t1:c.408C>T NP_000481.2:p.Asp136=
XM_011529267.1:c.408C>T XP_011527569.1:p.Asp136=
XM_011529267.2:c.408C>T XP_011527569.1:p.Asp136=
NM_000490.5:c.408C>T MANE Select NP_000481.2:p.Asp136=