Canonical Allele Identifier: CA408061386
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 2558973
ClinVar RCV Id: RCV003304869
gnomAD v4: 20-3082772-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082772T>A , CM000682.2:g.3082772T>A GRCh38
NC_000020.10:g.3063418T>A , CM000682.1:g.3063418T>A GRCh37
NC_000020.9:g.3011418T>A NCBI36
NG_008663.1:g.6953A>T , LRG_715:g.6953A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.353A>T MANE Select ENSP00000369647.3:p.Glu118Val
NM_000490.4:c.353A>T , LRG_715t1:c.353A>T NP_000481.2:p.Glu118Val
XM_011529267.1:c.353A>T XP_011527569.1:p.Glu118Val
XM_011529267.2:c.353A>T XP_011527569.1:p.Glu118Val
NM_000490.5:c.353A>T MANE Select NP_000481.2:p.Glu118Val