Canonical Allele Identifier: CA2649624391

Gene:

Linked Data

• dbSNP Id: rs2103110944
• gnomAD v4: 1-193121899-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193121899C>A , CM000663.2:g.193121899C>A	GRCh38
NC_000001.10:g.193091029C>A , CM000663.1:g.193091029C>A	GRCh37
NC_000001.9:g.191357652C>A	NCBI36
NG_012691.1:g.4942C>A , LRG_507:g.4942C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_001738350.1:n.1758G>T