Canonical Allele Identifier: CA743331379
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1349769644
gnomAD v3: 20-3084441-G-A
gnomAD v4: 20-3084441-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084441G>A , CM000682.2:g.3084441G>A GRCh38
NC_000020.10:g.3065087G>A , CM000682.1:g.3065087G>A GRCh37
NC_000020.9:g.3013087G>A NCBI36
NG_008663.1:g.5284C>T , LRG_715:g.5284C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.120+114C>T MANE Select ENSP00000369647.3:n.120+114C>T
NM_000490.4:c.120+114C>T , LRG_715t1:c.120+114C>T NP_000481.2:n.120+114C>T
XM_011529267.1:c.120+114C>T XP_011527569.1:n.120+114C>T
XM_011529267.2:c.120+114C>T XP_011527569.1:n.120+114C>T
NM_000490.5:c.120+114C>T MANE Select NP_000481.2:n.120+114C>T