Canonical Allele Identifier: CA2649624363

Gene:

Linked Data

• dbSNP Id: rs2103110891
• gnomAD v4: 1-193121869-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121869G>A , CM000663.2:g.193121869G>A	GRCh38
NC_000001.10:g.193090999G>A , CM000663.1:g.193090999G>A	GRCh37
NC_000001.9:g.191357622G>A	NCBI36
NG_012691.1:g.4912G>A , LRG_507:g.4912G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1788C>T