Canonical Allele Identifier: CA600546808

Gene:

Linked Data

• dbSNP Id: rs992794134
• gnomAD v2: 11-80854411-C-T
• gnomAD v3: 11-81143368-C-T
• gnomAD v4: 11-81143368-C-T
• MyVariant Identifiers: chr11:g.80854411C>T (hg19) ; chr11:g.81143368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.81143368C>T , CM000673.2:g.81143368C>T	GRCh38
NC_000011.9:g.80854411C>T , CM000673.1:g.80854411C>T	GRCh37
NC_000011.8:g.80532059C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.46+109558G>A