Canonical Allele Identifier: CA584842189

Gene:

Linked Data

• dbSNP Id: rs1244844457
• gnomAD v2: 8-124765792-T-G
• MyVariant Identifiers: chr8:g.124765792T>G (hg19) ; chr8:g.123753552T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.123753552T>G , CM000670.2:g.123753552T>G	GRCh38
NC_000008.10:g.124765792T>G , CM000670.1:g.124765792T>G	GRCh37
NC_000008.9:g.124834973T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928607.1:n.153-11231T>G
XR_928607.3:n.324-11231T>G