Canonical Allele Identifier: CA185688652

Gene:

Linked Data

• dbSNP Id: rs139491860
• gnomAD v2: 8-128011681-C-T
• gnomAD v3: 8-126999436-C-T
• gnomAD v4: 8-126999436-C-T
• MyVariant Identifiers: chr8:g.128011681C>T (hg19) ; chr8:g.126999436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999436C>T , CM000670.2:g.126999436C>T	GRCh38
NC_000008.10:g.128011681C>T , CM000670.1:g.128011681C>T	GRCh37
NC_000008.9:g.128080863C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7119C>T