Canonical Allele Identifier: CA185690294

Gene:

Linked Data

• dbSNP Id: rs569467075
• gnomAD v3: 8-127012516-T-C
• gnomAD v4: 8-127012516-T-C
• MyVariant Identifiers: chr8:g.128024761T>C (hg19) ; chr8:g.127012516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012516T>C , CM000670.2:g.127012516T>C	GRCh38
NC_000008.10:g.128024761T>C , CM000670.1:g.128024761T>C	GRCh37
NC_000008.9:g.128093943T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5898T>C