Canonical Allele Identifier: CA1014830583
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs981472398
gnomAD v3: 20-3082843-C-A
gnomAD v4: 20-3082843-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082843C>A , CM000682.2:g.3082843C>A GRCh38
NC_000020.10:g.3063489C>A , CM000682.1:g.3063489C>A GRCh37
NC_000020.9:g.3011489C>A NCBI36
NG_008663.1:g.6882G>T , LRG_715:g.6882G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.323-41G>T MANE Select ENSP00000369647.3:n.323-41G>T
NM_000490.4:c.323-41G>T , LRG_715t1:c.323-41G>T NP_000481.2:n.323-41G>T
XM_011529267.1:c.323-41G>T XP_011527569.1:n.323-41G>T
XM_011529267.2:c.323-41G>T XP_011527569.1:n.323-41G>T
NM_000490.5:c.323-41G>T MANE Select NP_000481.2:n.323-41G>T