Canonical Allele Identifier: CA182463517

Gene:

Linked Data

• dbSNP Id: rs888003681
• gnomAD v2: 8-98281785-G-A
• gnomAD v3: 8-97269557-G-A
• gnomAD v4: 8-97269557-G-A
• MyVariant Identifiers: chr8:g.98281785G>A (hg19) ; chr8:g.97269557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269557G>A , CM000670.2:g.97269557G>A	GRCh38
NC_000008.10:g.98281785G>A , CM000670.1:g.98281785G>A	GRCh37
NC_000008.9:g.98350961G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149513C>T