Canonical Allele Identifier: CA408061281
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3082723-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082723C>A , CM000682.2:g.3082723C>A GRCh38
NC_000020.10:g.3063369C>A , CM000682.1:g.3063369C>A GRCh37
NC_000020.9:g.3011369C>A NCBI36
NG_008663.1:g.7002G>T , LRG_715:g.7002G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.402G>T MANE Select ENSP00000369647.3:p.Gln134His
NM_000490.4:c.402G>T , LRG_715t1:c.402G>T NP_000481.2:p.Gln134His
XM_011529267.1:c.402G>T XP_011527569.1:p.Gln134His
XM_011529267.2:c.402G>T XP_011527569.1:p.Gln134His
NM_000490.5:c.402G>T MANE Select NP_000481.2:p.Gln134His