Canonical Allele Identifier: CA1077893079

Gene:

Linked Data

• dbSNP Id: rs1753647351
• gnomAD v3: 5-79549976-G-A
• gnomAD v4: 5-79549976-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549976G>A , CM000667.2:g.79549976G>A	GRCh38
NC_000005.9:g.78845799G>A , CM000667.1:g.78845799G>A	GRCh37
NC_000005.8:g.78881555G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2332G>A
XR_948498.1:n.159+2139G>A
XR_948499.1:n.67+1674G>A
XR_948497.2:n.72+2332G>A
XR_948498.2:n.159+2139G>A
XR_948499.2:n.225+1674G>A