Canonical Allele Identifier: CA580513167

Gene:

Linked Data

• dbSNP Id: rs1408215360
• gnomAD v2: 8-19987542-C-T
• gnomAD v3: 8-20130031-C-T
• gnomAD v4: 8-20130031-C-T
• MyVariant Identifiers: chr8:g.19987542C>T (hg19) ; chr8:g.20130031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130031C>T , CM000670.2:g.20130031C>T	GRCh38
NC_000008.10:g.19987542C>T , CM000670.1:g.19987542C>T	GRCh37
NC_000008.9:g.20031822C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+112C>T
XR_949563.2:n.3400+112C>T