Canonical Allele Identifier: CA982866778

Gene:

Linked Data

• dbSNP Id: rs1205393829
• gnomAD v3: 17-30237357-T-A
• gnomAD v4: 17-30237357-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237357T>A , CM000679.2:g.30237357T>A	GRCh38
NC_000017.10:g.28564375T>A , CM000679.1:g.28564375T>A	GRCh37
NC_000017.9:g.25588501T>A	NCBI36
NG_011747.2:g.3580A>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-285T>A
XR_001752824.1:n.281-285T>A