Canonical Allele Identifier: CA981245707

Gene:

Linked Data

• dbSNP Id: rs1981888783
• gnomAD v3: 17-8137328-C-T
• gnomAD v4: 17-8137328-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137328C>T , CM000679.2:g.8137328C>T	GRCh38
NC_000017.10:g.8040646C>T , CM000679.1:g.8040646C>T	GRCh37
NC_000017.9:g.7981371C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1521C>T
XR_934203.1:n.70-2149C>T
XR_934202.2:n.414-1521C>T