Canonical Allele Identifier: CA9739444
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs759299430
gnomAD v2: 20-3063660-C-G
gnomAD v4: 20-3083014-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083014C>G , CM000682.2:g.3083014C>G GRCh38
NC_000020.10:g.3063660C>G , CM000682.1:g.3063660C>G GRCh37
NC_000020.9:g.3011660C>G NCBI36
NG_008663.1:g.6711G>C , LRG_715:g.6711G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.285G>C MANE Select ENSP00000369647.3:p.Gly95=
NM_000490.4:c.285G>C , LRG_715t1:c.285G>C NP_000481.2:p.Gly95=
XM_011529267.1:c.285G>C XP_011527569.1:p.Gly95=
XM_011529267.2:c.285G>C XP_011527569.1:p.Gly95=
NM_000490.5:c.285G>C MANE Select NP_000481.2:p.Gly95=