Canonical Allele Identifier: CA185510388

Gene:

Linked Data

• dbSNP Id: rs967597578
• gnomAD v2: 8-126486315-C-G
• gnomAD v3: 8-125474073-C-G
• gnomAD v4: 8-125474073-C-G
• MyVariant Identifiers: chr8:g.126486315C>G (hg19) ; chr8:g.125474073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474073C>G , CM000670.2:g.125474073C>G	GRCh38
NC_000008.10:g.126486315C>G , CM000670.1:g.126486315C>G	GRCh37
NC_000008.9:g.126555497C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+759C>G