Canonical Allele Identifier: CA173376451

Gene:

Linked Data

• dbSNP Id: rs556400097
• gnomAD v2: 8-19987551-C-T
• gnomAD v3: 8-20130040-C-T
• gnomAD v4: 8-20130040-C-T
• MyVariant Identifiers: chr8:g.19987551C>T (hg19) ; chr8:g.20130040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130040C>T , CM000670.2:g.20130040C>T	GRCh38
NC_000008.10:g.19987551C>T , CM000670.1:g.19987551C>T	GRCh37
NC_000008.9:g.20031831C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_949563.1:n.3408+121C>T
XR_949563.2:n.3400+121C>T