Canonical Allele Identifier: CA9739482

Gene: AVP

Linked Data

• dbSNP Id: rs779621649
• ExAC: 20:3065166 A / G
• gnomAD v2: 20-3065166-A-G
• gnomAD v4: 20-3084520-A-G
• MyVariant Identifiers: chr20:g.3065166A>G (hg19) ; chr20:g.3084520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3084520A>G , CM000682.2:g.3084520A>G	GRCh38
NC_000020.10:g.3065166A>G , CM000682.1:g.3065166A>G	GRCh37
NC_000020.9:g.3013166A>G	NCBI36
NG_008663.1:g.5205T>C , LRG_715:g.5205T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380293.3:c.120+35T>C MANE Select	ENSP00000369647.3:n.120+35T>C
NM_000490.4:c.120+35T>C , LRG_715t1:c.120+35T>C	NP_000481.2:n.120+35T>C
XM_011529267.1:c.120+35T>C	XP_011527569.1:n.120+35T>C
XM_011529267.2:c.120+35T>C	XP_011527569.1:n.120+35T>C
NM_000490.5:c.120+35T>C MANE Select	NP_000481.2:n.120+35T>C