Canonical Allele Identifier: CA2221132855

Gene:

Linked Data

• dbSNP Id: rs940617990
• gnomAD v3: 16-49108728-C-A
• gnomAD v4: 16-49108728-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108728C>A , CM000678.2:g.49108728C>A	GRCh38
NC_000016.9:g.49142639C>A , CM000678.1:g.49142639C>A	GRCh37
NC_000016.8:g.47700140C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1216G>T
XR_001752138.2:n.591+5248G>T
XR_933517.2:n.810+1216G>T