Canonical Allele Identifier: CA180418758

Gene:

Linked Data

• dbSNP Id: rs997577232
• gnomAD v2: 8-80103459-T-C
• gnomAD v3: 8-79191224-T-C
• gnomAD v4: 8-79191224-T-C
• MyVariant Identifiers: chr8:g.80103459T>C (hg19) ; chr8:g.79191224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.79191224T>C , CM000670.2:g.79191224T>C	GRCh38
NC_000008.10:g.80103459T>C , CM000670.1:g.80103459T>C	GRCh37
NC_000008.9:g.80266014T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745720.1:n.105+853T>C