Canonical Allele Identifier: CA977151096

Gene:

Linked Data

• dbSNP Id: rs1961470064
• gnomAD v3: 16-49108786-G-A
• gnomAD v4: 16-49108786-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108786G>A , CM000678.2:g.49108786G>A	GRCh38
NC_000016.9:g.49142697G>A , CM000678.1:g.49142697G>A	GRCh37
NC_000016.8:g.47700198G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1158C>T
XR_001752138.2:n.591+5190C>T
XR_933517.2:n.810+1158C>T