Canonical Allele Identifier: CA1118991825

Gene:

Linked Data

• dbSNP Id: rs1814934698
• gnomAD v3: 8-126999387-T-C
• gnomAD v4: 8-126999387-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999387T>C , CM000670.2:g.126999387T>C	GRCh38
NC_000008.10:g.128011632T>C , CM000670.1:g.128011632T>C	GRCh37
NC_000008.9:g.128080814T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7168T>C