gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10843295 (NFE)
Genomes Max Group AF
0.10843295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18935615C>T , CM000686.2:g.18935615C>T | GRCh38 |
| NC_000024.9:g.21097501C>T , CM000686.1:g.21097501C>T | GRCh37 |
| NC_000024.8:g.19556889C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125733.1:n.579-2140G>A | ||
| NR_125734.1:n.579-58410G>A | ||
| NR_125735.1:n.504-58410G>A | ||
| NR_125736.1:n.139-23133G>A | ||
| NR_125737.1:n.139-2774G>A | ||
| NR_001543.4:n.504-2774G>A | ||
| NR_125737.2:n.139-2774G>A | ||
| NR_158640.1:n.153-58410G>A | ||
| NR_158641.1:n.369-2774G>A |