Canonical Allele Identifier: CA509404215
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1245423959
gnomAD v2: 20-3063381-G-A
gnomAD v4: 20-3082735-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082735G>A , CM000682.2:g.3082735G>A GRCh38
NC_000020.10:g.3063381G>A , CM000682.1:g.3063381G>A GRCh37
NC_000020.9:g.3011381G>A NCBI36
NG_008663.1:g.6990C>T , LRG_715:g.6990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.390C>T MANE Select ENSP00000369647.3:p.Ser130=
NM_000490.4:c.390C>T , LRG_715t1:c.390C>T NP_000481.2:p.Ser130=
XM_011529267.1:c.390C>T XP_011527569.1:p.Ser130=
XM_011529267.2:c.390C>T XP_011527569.1:p.Ser130=
NM_000490.5:c.390C>T MANE Select NP_000481.2:p.Ser130=