Revel Score:
ENST00000375135 (MANE Select)
0.513
gnomAD v4:
Joint Max Group AF
0.00000105 (NFE)
Exomes Max Group AF
0.00000111 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54446383A>G , CM000685.2:g.54446383A>G | GRCh38 |
| NC_000023.10:g.54472816A>G , CM000685.1:g.54472816A>G | GRCh37 |
| NC_000023.9:g.54489541A>G | NCBI36 |
| NG_008054.1:g.54784T>C | |
| NG_051993.1:g.11009A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.2612T>C (FGD1) MANE Select | ENSP00000364277.3:p.Ile871Thr | |
| ENST00000375151.5:c.*1833A>G (TSR2) MANE Select | ENSP00000364293.4:n.*1833A>G | |
| ENST00000375135.3:c.2612T>C (FGD1) | ENSP00000364277.3:p.Ile871Thr | |
| NM_004463.2:c.2612T>C (FGD1) | NP_004454.2:p.Ile871Thr | |
| NM_001346789.1:c.*1833A>G (TSR2) | NP_001333718.1:n.*1833A>G | |
| NM_001346790.1:c.*1833A>G (TSR2) | NP_001333719.1:n.*1833A>G | |
| NM_001346791.1:c.*1833A>G (TSR2) | NP_001333720.1:n.*1833A>G | |
| NM_001346792.1:c.*1833A>G (TSR2) | NP_001333721.1:n.*1833A>G | |
| NM_058163.2:c.*1833A>G (TSR2) | NP_477511.1:n.*1833A>G | |
| NM_004463.3:c.2612T>C (FGD1) MANE Select | NP_004454.2:p.Ile871Thr | |
| NM_058163.3:c.*1833A>G (TSR2) MANE Select | NP_477511.1:n.*1833A>G | |
| NM_001346789.2:c.*1833A>G (TSR2) | NP_001333718.1:n.*1833A>G | |
| NM_001346790.2:c.*1833A>G (TSR2) | NP_001333719.1:n.*1833A>G | |
| NM_001346791.2:c.*1833A>G (TSR2) | NP_001333720.1:n.*1833A>G | |
| NM_001346792.2:c.*1833A>G (TSR2) | NP_001333721.1:n.*1833A>G |