Canonical Allele Identifier: CA182463530

Gene:

Linked Data

• dbSNP Id: rs141453132
• gnomAD v2: 8-98281791-T-C
• gnomAD v3: 8-97269563-T-C
• gnomAD v4: 8-97269563-T-C
• MyVariant Identifiers: chr8:g.98281791T>C (hg19) ; chr8:g.97269563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269563T>C , CM000670.2:g.97269563T>C	GRCh38
NC_000008.10:g.98281791T>C , CM000670.1:g.98281791T>C	GRCh37
NC_000008.9:g.98350967T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125390.1:n.471+149507A>G