Canonical Allele Identifier: CA981245696

Gene:

Linked Data

• dbSNP Id: rs1981887840
• gnomAD v3: 17-8137287-G-A
• gnomAD v4: 17-8137287-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137287G>A , CM000679.2:g.8137287G>A	GRCh38
NC_000017.10:g.8040605G>A , CM000679.1:g.8040605G>A	GRCh37
NC_000017.9:g.7981330G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1562G>A
XR_934203.1:n.70-2190G>A
XR_934202.2:n.414-1562G>A