Canonical Allele Identifier:
CA13214648
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37486241 (NFE)
Genomes Max Group AF
0.37486241 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.11678309A>G , CM000672.2:g.11678309A>G | GRCh38 |
| NC_000010.10:g.11720308A>G , CM000672.1:g.11720308A>G | GRCh37 |
| NC_000010.9:g.11760314A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930659.1:n.40-950A>G | ||
| XR_930660.1:n.466-950A>G | ||
| XR_930661.1:n.784-950A>G | ||
| XR_930662.1:n.2156+1565T>C | ||
| XR_002957063.1:n.932-950A>G | ||
| XR_930661.2:n.785-950A>G | ||
| XR_930662.3:n.2156+1565T>C |