Canonical Allele Identifier:
CA14863400
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22329959 (NFE)
Genomes Max Group AF
0.22329959 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42351602A>G , CM000683.2:g.42351602A>G | GRCh38 |
| NC_000021.8:g.43771711A>G , CM000683.1:g.43771711A>G | GRCh37 |
| NC_000021.7:g.42644780A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937750.1:n.380A>G | ||
| XR_937751.1:n.380A>G | ||
| XR_937752.1:n.380A>G | ||
| XR_937753.1:n.380A>G | ||
| XR_937754.1:n.380A>G | ||
| XR_937755.1:n.380A>G | ||
| XR_001755064.1:n.384A>G | ||
| XR_001755065.1:n.384A>G | ||
| XR_001755066.1:n.384A>G | ||
| XR_001755067.1:n.384A>G | ||
| XR_937750.2:n.384A>G | ||
| XR_937754.2:n.384A>G | ||
| XR_937755.2:n.384A>G |