Canonical Allele Identifier: CA1448272

Gene: AGT

Linked Data

• ClinVar Variation Id: 296083
• ClinVar RCV Id: RCV000366681
• dbSNP Id: rs4762
• ExAC: 1:230845977 G / A
• gnomAD: 1:230845977 G / A
• MyVariant Identifiers: chr1:g.230845977G>A (hg19) ; chr1:g.230710231G>A (hg38)
• PubMed: PMID:1394429 ; PMID:23251296

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.230710231G>A , CM000663.2:g.230710231G>A	GRCh38
NC_000001.10:g.230845977G>A , CM000663.1:g.230845977G>A	GRCh37
NC_000001.9:g.228912600G>A	NCBI36
NG_008836.1:g.9360C>T
NG_008836.2:g.9360C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366667.4:c.620C>T	ENSP00000355627.4:p.Thr207Met
NM_000029.3:c.620C>T	NP_000020.1:p.Thr207Met
NM_000029.4:c.620C>T	NP_000020.1:p.Thr207Met
NM_001382817.3:c.593C>T	NP_001369746.2:p.Thr198Met
NM_001384479.1:c.593C>T MANE Select	NP_001371408.1:p.Thr198Met