Canonical Allele Identifier: CA583781702

Gene:

Linked Data

• dbSNP Id: rs1483454978
• gnomAD v2: 8-98281824-T-G
• gnomAD v3: 8-97269596-T-G
• gnomAD v4: 8-97269596-T-G
• MyVariant Identifiers: chr8:g.98281824T>G (hg19) ; chr8:g.97269596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269596T>G , CM000670.2:g.97269596T>G	GRCh38
NC_000008.10:g.98281824T>G , CM000670.1:g.98281824T>G	GRCh37
NC_000008.9:g.98351000T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125390.1:n.471+149474A>C