Canonical Allele Identifier: CA600536286

Gene:

Linked Data

• dbSNP Id: rs1378032281
• gnomAD v2: 11-80562767-T-G
• gnomAD v3: 11-80851724-T-G
• gnomAD v4: 11-80851724-T-G
• MyVariant Identifiers: chr11:g.80562767T>G (hg19) ; chr11:g.80851724T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.80851724T>G , CM000673.2:g.80851724T>G	GRCh38
NC_000011.9:g.80562767T>G , CM000673.1:g.80562767T>G	GRCh37
NC_000011.8:g.80240415T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.124+60567A>C