Canonical Allele Identifier: CA981245726

Gene:

Linked Data

• dbSNP Id: rs1981890247
• gnomAD v3: 17-8137380-C-A
• gnomAD v4: 17-8137380-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137380C>A , CM000679.2:g.8137380C>A	GRCh38
NC_000017.10:g.8040698C>A , CM000679.1:g.8040698C>A	GRCh37
NC_000017.9:g.7981423C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1469C>A
XR_934203.1:n.70-2097C>A
XR_934202.2:n.414-1469C>A