Canonical Allele Identifier: CA175153955

Gene:

Linked Data

• dbSNP Id: rs186384461
• gnomAD v2: 8-33665712-C-T
• gnomAD v3: 8-33808194-C-T
• gnomAD v4: 8-33808194-C-T
• MyVariant Identifiers: chr8:g.33665712C>T (hg19) ; chr8:g.33808194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33808194C>T , CM000670.2:g.33808194C>T	GRCh38
NC_000008.10:g.33665712C>T , CM000670.1:g.33665712C>T	GRCh37
NC_000008.9:g.33785254C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949659.1:n.240+11758C>T
XR_002956701.1:n.240+11758C>T