gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52383546 (EAS)
Genomes Max Group AF
0.52383546 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123462521T>G , CM000672.2:g.123462521T>G | GRCh38 |
| NC_000010.10:g.125222037T>G , CM000672.1:g.125222037T>G | GRCh37 |
| NC_000010.9:g.125212027T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946399.1:n.3175+13009T>G | ||
| XR_946400.1:n.2833+13009T>G | ||
| XR_946402.1:n.3063+13009T>G | ||
| XR_946403.1:n.3400+13009T>G | ||
| XR_946405.1:n.2844+13009T>G | ||
| XR_946408.1:n.3069+13009T>G | ||
| XR_946412.1:n.307+13009T>G | ||
| XR_946413.1:n.3175+13009T>G | ||
| XR_946417.1:n.148-26402T>G | ||
| XR_001747614.1:n.6191+13009T>G | ||
| XR_001747615.1:n.8957+13009T>G | ||
| XR_001747617.2:n.4761+13009T>G | ||
| XR_001747619.2:n.4602-26402T>G | ||
| XR_002957104.1:n.6522+13009T>G | ||
| XR_002957105.1:n.5853+13009T>G |