Canonical Allele Identifier: CA982866849

Gene:

Linked Data

• dbSNP Id: rs1907329138
• gnomAD v3: 17-30237375-G-A
• gnomAD v4: 17-30237375-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237375G>A , CM000679.2:g.30237375G>A	GRCh38
NC_000017.10:g.28564393G>A , CM000679.1:g.28564393G>A	GRCh37
NC_000017.9:g.25588519G>A	NCBI36
NG_011747.2:g.3562C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-267G>A
XR_001752824.1:n.281-267G>A