Canonical Allele Identifier: CA185510868

Gene:

Linked Data

• dbSNP Id: rs554795455
• gnomAD v2: 8-126490571-T-C
• gnomAD v3: 8-125478329-T-C
• gnomAD v4: 8-125478329-T-C
• MyVariant Identifiers: chr8:g.126490571T>C (hg19) ; chr8:g.125478329T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478329T>C , CM000670.2:g.125478329T>C	GRCh38
NC_000008.10:g.126490571T>C , CM000670.1:g.126490571T>C	GRCh37
NC_000008.9:g.126559753T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5015T>C