Canonical Allele Identifier: CA583781695

Gene:

Linked Data

• dbSNP Id: rs1245284486
• gnomAD v2: 8-98281782-C-A
• gnomAD v3: 8-97269554-C-A
• gnomAD v4: 8-97269554-C-A
• MyVariant Identifiers: chr8:g.98281782C>A (hg19) ; chr8:g.97269554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269554C>A , CM000670.2:g.97269554C>A	GRCh38
NC_000008.10:g.98281782C>A , CM000670.1:g.98281782C>A	GRCh37
NC_000008.9:g.98350958C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149516G>T