Canonical Allele Identifier: CA225652663

Gene:

Linked Data

• dbSNP Id: rs999631718
• gnomAD v2: 11-80562783-T-C
• gnomAD v3: 11-80851740-T-C
• gnomAD v4: 11-80851740-T-C
• MyVariant Identifiers: chr11:g.80562783T>C (hg19) ; chr11:g.80851740T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.80851740T>C , CM000673.2:g.80851740T>C	GRCh38
NC_000011.9:g.80562783T>C , CM000673.1:g.80562783T>C	GRCh37
NC_000011.8:g.80240431T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_247272.2:n.124+60551A>G