Canonical Allele Identifier: CA982866683

Gene:

Linked Data

• dbSNP Id: rs1597650456
• gnomAD v3: 17-30237336-C-A
• gnomAD v4: 17-30237336-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237336C>A , CM000679.2:g.30237336C>A	GRCh38
NC_000017.10:g.28564354C>A , CM000679.1:g.28564354C>A	GRCh37
NC_000017.9:g.25588480C>A	NCBI36
NG_011747.2:g.3601G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+266C>A
XR_001752824.1:n.280+266C>A