Canonical Allele Identifier: CA1115693114

Gene:

Linked Data

• dbSNP Id: rs1810030367
• gnomAD v3: 8-79191183-G-C
• gnomAD v4: 8-79191183-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191183G>C , CM000670.2:g.79191183G>C	GRCh38
NC_000008.10:g.80103418G>C , CM000670.1:g.80103418G>C	GRCh37
NC_000008.9:g.80265973G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745720.1:n.105+812G>C