Canonical Allele Identifier: CA2590216668

Gene:

Linked Data

• dbSNP Id: rs1440053858
• gnomAD v3: 17-8137283-T-A
• gnomAD v4: 17-8137283-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137283T>A , CM000679.2:g.8137283T>A	GRCh38
NC_000017.10:g.8040601T>A , CM000679.1:g.8040601T>A	GRCh37
NC_000017.9:g.7981326T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1566T>A
XR_934203.1:n.70-2194T>A
XR_934202.2:n.414-1566T>A