Canonical Allele Identifier: CA185510389

Gene:

Linked Data

• dbSNP Id: rs114330659
• gnomAD v2: 8-126486317-C-T
• gnomAD v3: 8-125474075-C-T
• gnomAD v4: 8-125474075-C-T
• MyVariant Identifiers: chr8:g.126486317C>T (hg19) ; chr8:g.125474075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474075C>T , CM000670.2:g.125474075C>T	GRCh38
NC_000008.10:g.126486317C>T , CM000670.1:g.126486317C>T	GRCh37
NC_000008.9:g.126555499C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+761C>T