Canonical Allele Identifier: CA9739502
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs778465292
gnomAD v2: 20-3065280-A-T
gnomAD v4: 20-3084634-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084634A>T , CM000682.2:g.3084634A>T GRCh38
NC_000020.10:g.3065280A>T , CM000682.1:g.3065280A>T GRCh37
NC_000020.9:g.3013280A>T NCBI36
NG_008663.1:g.5091T>A , LRG_715:g.5091T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.41T>A MANE Select ENSP00000369647.3:p.Leu14Gln
NM_000490.4:c.41T>A , LRG_715t1:c.41T>A NP_000481.2:p.Leu14Gln
XM_011529267.1:c.41T>A XP_011527569.1:p.Leu14Gln
XM_011529267.2:c.41T>A XP_011527569.1:p.Leu14Gln
NM_000490.5:c.41T>A MANE Select NP_000481.2:p.Leu14Gln