Revel Score:
ENST00000264669 (MANE Select)
0.016
ENST00000504695
0.016
ENST00000507572
0.016
gnomAD v4:
Joint Max Group AF
0.00001774 (EAS)
Exomes Max Group AF
0.00002003 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7867917T>G , CM000667.2:g.7867917T>G | GRCh38 |
| NC_000005.9:g.7868030T>G , CM000667.1:g.7868030T>G | GRCh37 |
| NC_000005.8:g.7921030T>G | NCBI36 |
| NG_008856.1:g.3814T>G | |
| NG_033101.1:g.6121A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264669.10:c.167A>C (FASTKD3) MANE Select | ENSP00000264669.5:p.Lys56Thr | |
| ENST00000264669.9:c.167A>C (FASTKD3) | ENSP00000264669.5:p.Lys56Thr | |
| ENST00000282110.8:n.32+1062A>C (FASTKD3) | ||
| ENST00000502509.5:n.498+5860T>G (MTRR) | ||
| ENST00000504695.1:c.167A>C (FASTKD3) | ENSP00000426008.1:p.Lys56Thr | |
| ENST00000507036.1:c.167A>C (FASTKD3) | ENSP00000421798.1:p.Lys56Thr | |
| ENST00000507572.1:c.116A>C (FASTKD3) | ENSP00000422443.1:p.Lys39Thr | |
| ENST00000511261.5:c.131+36A>C (FASTKD3) | ENSP00000424568.1:n.131+36A>C | |
| ENST00000513658.5:n.48+1062A>C (FASTKD3) | ||
| NM_024091.3:c.167A>C (FASTKD3) | NP_076996.2:p.Lys56Thr | |
| NR_036553.1:n.59+1062A>C (FASTKD3) | ||
| NR_073608.1:n.59+1062A>C (FASTKD3) | ||
| XM_006714498.1:c.167A>C (FASTKD3) | XP_006714561.1:p.Lys56Thr | |
| XM_011514044.1:c.-25-2853T>G (MTRR) | XP_011512346.1:n.-25-2853T>G | |
| XR_427664.1:n.339A>C (FASTKD3) | ||
| XM_024446064.1:c.-25-2853T>G (MTRR) | XP_024301832.1:n.-25-2853T>G | |
| XR_001742253.1:n.250A>C (FASTKD3) | ||
| XR_427664.2:n.339A>C (FASTKD3) | ||
| NM_024091.4:c.167A>C (FASTKD3) MANE Select | NP_076996.2:p.Lys56Thr | |
| NR_036553.2:n.53+1062A>C (FASTKD3) | ||
| NR_073608.2:n.53+1062A>C (FASTKD3) |