Canonical Allele Identifier: CA9739443
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs121964884
gnomAD v2: 20-3063651-G-A
gnomAD v3: 20-3083005-G-A
gnomAD v4: 20-3083005-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083005G>A , CM000682.2:g.3083005G>A GRCh38
NC_000020.10:g.3063651G>A , CM000682.1:g.3063651G>A GRCh37
NC_000020.9:g.3011651G>A NCBI36
NG_008663.1:g.6720C>T , LRG_715:g.6720C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.294C>T MANE Select ENSP00000369647.3:p.Cys98=
NM_000490.4:c.294C>T , LRG_715t1:c.294C>T NP_000481.2:p.Cys98=
XM_011529267.1:c.294C>T XP_011527569.1:p.Cys98=
XM_011529267.2:c.294C>T XP_011527569.1:p.Cys98=
NM_000490.5:c.294C>T MANE Select NP_000481.2:p.Cys98=