Canonical Allele Identifier: CA634168465
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1431230260
gnomAD v2: 20-3065105-A-G
gnomAD v3: 20-3084459-A-G
gnomAD v4: 20-3084459-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084459A>G , CM000682.2:g.3084459A>G GRCh38
NC_000020.10:g.3065105A>G , CM000682.1:g.3065105A>G GRCh37
NC_000020.9:g.3013105A>G NCBI36
NG_008663.1:g.5266T>C , LRG_715:g.5266T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.120+96T>C MANE Select ENSP00000369647.3:n.120+96T>C
NM_000490.4:c.120+96T>C , LRG_715t1:c.120+96T>C NP_000481.2:n.120+96T>C
XM_011529267.1:c.120+96T>C XP_011527569.1:n.120+96T>C
XM_011529267.2:c.120+96T>C XP_011527569.1:n.120+96T>C
NM_000490.5:c.120+96T>C MANE Select NP_000481.2:n.120+96T>C