Canonical Allele Identifier: CA982866589

Gene:

Linked Data

• dbSNP Id: rs1907325159
• gnomAD v3: 17-30237320-G-A
• gnomAD v4: 17-30237320-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237320G>A , CM000679.2:g.30237320G>A	GRCh38
NC_000017.10:g.28564338G>A , CM000679.1:g.28564338G>A	GRCh37
NC_000017.9:g.25588464G>A	NCBI36
NG_011747.2:g.3617C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+250G>A
XR_001752824.1:n.280+250G>A