gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5341808 (NFE)
Genomes Max Group AF
0.5341808 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58395681T>C , CM000677.2:g.58395681T>C | GRCh38 |
| NC_000015.9:g.58687880T>C , CM000677.1:g.58687880T>C | GRCh37 |
| NC_000015.8:g.56475172T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558239.5:c.-172+24290A>G | ENSP00000453292.1:n.-172+24290A>G | |
| ENST00000560863.5:n.415+24290A>G | ||
| XR_429537.2:n.164+24290A>G | ||
| XR_932289.1:n.165-10825A>G | ||
| XR_001751556.2:n.216+24290A>G | ||
| XR_001751557.2:n.216+24290A>G | ||
| XR_001751558.2:n.216+24290A>G | ||
| XR_001751559.2:n.216+24290A>G | ||
| XR_001751560.2:n.216+24290A>G | ||
| XR_001751563.2:n.216+24290A>G | ||
| XR_001751565.2:n.217-7185A>G | ||
| XR_429537.4:n.216+24290A>G |