gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73091501 (AMR)
Genomes Max Group AF
0.73091501 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67029048T>C , CM000677.2:g.67029048T>C | GRCh38 |
| NC_000015.9:g.67321386T>C , CM000677.1:g.67321386T>C | GRCh37 |
| NC_000015.8:g.65108440T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_429554.2:n.108+30092A>G | ||
| XR_932382.1:n.109+30092A>G | ||
| XR_932383.1:n.1140+30092A>G | ||
| XR_932387.1:n.105+30092A>G | ||
| XR_932389.1:n.109-19684A>G | ||
| XR_932390.1:n.168+27361A>G | ||
| XR_932394.1:n.33+2287A>G | ||
| NR_135686.1:n.1140+30092A>G |