Canonical Allele Identifier: CA121970
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 12217
ClinVar RCV Id: RCV000013001
dbSNP Id: rs121964891
gnomAD v4: 20-3083024-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083024C>T , CM000682.2:g.3083024C>T GRCh38
NC_000020.10:g.3063670C>T , CM000682.1:g.3063670C>T GRCh37
NC_000020.9:g.3011670C>T NCBI36
NG_008663.1:g.6701G>A , LRG_715:g.6701G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.275G>A MANE Select ENSP00000369647.3:p.Cys92Tyr
NM_000490.4:c.275G>A , LRG_715t1:c.275G>A NP_000481.2:p.Cys92Tyr
XM_011529267.1:c.275G>A XP_011527569.1:p.Cys92Tyr
XM_011529267.2:c.275G>A XP_011527569.1:p.Cys92Tyr
NM_000490.5:c.275G>A MANE Select NP_000481.2:p.Cys92Tyr