Canonical Allele Identifier: CA743329862
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1406177956
gnomAD v3: 20-3082893-G-T
gnomAD v4: 20-3082893-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082893G>T , CM000682.2:g.3082893G>T GRCh38
NC_000020.10:g.3063539G>T , CM000682.1:g.3063539G>T GRCh37
NC_000020.9:g.3011539G>T NCBI36
NG_008663.1:g.6832C>A , LRG_715:g.6832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.322+84C>A MANE Select ENSP00000369647.3:n.322+84C>A
NM_000490.4:c.322+84C>A , LRG_715t1:c.322+84C>A NP_000481.2:n.322+84C>A
XM_011529267.1:c.322+84C>A XP_011527569.1:n.322+84C>A
XM_011529267.2:c.322+84C>A XP_011527569.1:n.322+84C>A
NM_000490.5:c.322+84C>A MANE Select NP_000481.2:n.322+84C>A