Canonical Allele Identifier: CA2599051371

Gene:

Linked Data

• dbSNP Id: rs2109569180
• gnomAD v3: 4-62557904-T-G
• gnomAD v4: 4-62557904-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.62557904T>G , CM000666.2:g.62557904T>G	GRCh38
NC_000004.11:g.63423622T>G , CM000666.1:g.63423622T>G	GRCh37
NC_000004.10:g.63106217T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_938814.1:n.161-5940T>G