Canonical Allele Identifier: CA982817092

Gene:

Linked Data

• dbSNP Id: rs2069612647
• gnomAD v3: 17-29376242-A-T
• gnomAD v4: 17-29376242-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29376242A>T , CM000679.2:g.29376242A>T	GRCh38
NC_000017.10:g.27703260A>T , CM000679.1:g.27703260A>T	GRCh37
NC_000017.9:g.24727386A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011525588.1:c.1008-5937T>A	XP_011523890.1:n.1008-5937T>A