Canonical Allele Identifier: CA182463793

Gene:

Linked Data

• dbSNP Id: rs747243805
• gnomAD v2: 8-98282083-C-G
• gnomAD v3: 8-97269855-C-G
• gnomAD v4: 8-97269855-C-G
• MyVariant Identifiers: chr8:g.98282083C>G (hg19) ; chr8:g.97269855C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269855C>G , CM000670.2:g.97269855C>G	GRCh38
NC_000008.10:g.98282083C>G , CM000670.1:g.98282083C>G	GRCh37
NC_000008.9:g.98351259C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149215G>C