Canonical Allele Identifier: CA182463642

Gene:

Linked Data

• dbSNP Id: rs988573112
• gnomAD v2: 8-98281930-G-A
• gnomAD v3: 8-97269702-G-A
• gnomAD v4: 8-97269702-G-A
• MyVariant Identifiers: chr8:g.98281930G>A (hg19) ; chr8:g.97269702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269702G>A , CM000670.2:g.97269702G>A	GRCh38
NC_000008.10:g.98281930G>A , CM000670.1:g.98281930G>A	GRCh37
NC_000008.9:g.98351106G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149368C>T