Canonical Allele Identifier: CA2649624305

Gene:

Linked Data

• dbSNP Id: rs1294446724
• gnomAD v4: 1-193121821-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121821G>A , CM000663.2:g.193121821G>A	GRCh38
NC_000001.10:g.193090951G>A , CM000663.1:g.193090951G>A	GRCh37
NC_000001.9:g.191357574G>A	NCBI36
NG_012691.1:g.4864G>A , LRG_507:g.4864G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1836C>T