Canonical Allele Identifier: CA1099401425

Gene:

Linked Data

• dbSNP Id: rs1787633326
• gnomAD v3: 7-24291895-T-C
• gnomAD v4: 7-24291895-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24291895T>C , CM000669.2:g.24291895T>C	GRCh38
NC_000007.13:g.24331514T>C , CM000669.1:g.24331514T>C	GRCh37
NC_000007.12:g.24298039T>C	NCBI36
NG_016148.1:g.12708T>C

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.41+27462A>G	XP_016868399.1:n.41+27462A>G
XM_017012911.1:c.41+27462A>G	XP_016868400.1:n.41+27462A>G
XR_001745121.1:n.473+27462A>G
XR_001745122.1:n.345-94866A>G
XR_001745123.1:n.473+27462A>G
XR_001745124.1:n.473+27462A>G
XR_001745125.1:n.473+27462A>G
XR_001745126.1:n.473+27462A>G
XR_001745127.1:n.345-36196A>G
XR_001745129.1:n.473+27462A>G
XR_001745130.1:n.473+27462A>G
XR_001745131.1:n.473+27462A>G
XR_001745132.1:n.473+27462A>G