Canonical Allele Identifier: CA982817120

Gene:

Linked Data

• dbSNP Id: rs2069612999
• gnomAD v3: 17-29376339-A-G
• gnomAD v4: 17-29376339-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.29376339A>G , CM000679.2:g.29376339A>G	GRCh38
NC_000017.10:g.27703357A>G , CM000679.1:g.27703357A>G	GRCh37
NC_000017.9:g.24727483A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011525588.1:c.1008-6034T>C	XP_011523890.1:n.1008-6034T>C