Canonical Allele Identifier: CA182463643

Gene:

Linked Data

• dbSNP Id: rs62507236
• gnomAD v2: 8-98281939-A-C
• gnomAD v3: 8-97269711-A-C
• gnomAD v4: 8-97269711-A-C
• MyVariant Identifiers: chr8:g.98281939A>C (hg19) ; chr8:g.97269711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269711A>C , CM000670.2:g.97269711A>C	GRCh38
NC_000008.10:g.98281939A>C , CM000670.1:g.98281939A>C	GRCh37
NC_000008.9:g.98351115A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149359T>G