Revel Score:
ENST00000447366
0.566
ENST00000467482 (MANE Select)
0.947
ENST00000380929
0.947
ENST00000431126
0.947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9743637G>T , CM000685.2:g.9743637G>T | GRCh38 |
| NC_000023.10:g.9711677G>T , CM000685.1:g.9711677G>T | GRCh37 |
| NC_000023.9:g.9671677G>T | NCBI36 |
| NG_009074.1:g.27241C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.695C>A MANE Select | ENSP00000417161.1:p.Thr232Lys | |
| ENST00000431126.1:c.443C>A | ENSP00000406138.1:p.Thr148Lys | |
| ENST00000447366.5:c.443C>A | ENSP00000390546.2:p.Thr148Lys | |
| ENST00000467482.5:c.695C>A | ENSP00000417161.1:p.Thr232Lys | |
| NM_000273.2:c.695C>A | NP_000264.2:p.Thr232Lys | |
| XM_005274541.2:c.695C>A | XP_005274598.1:p.Thr232Lys | |
| XM_005274541.3:c.695C>A | XP_005274598.1:p.Thr232Lys | |
| XM_024452387.1:c.443C>A | XP_024308155.1:p.Thr148Lys | |
| XM_024452388.1:c.443C>A | XP_024308156.1:p.Thr148Lys | |
| NM_000273.3:c.695C>A MANE Select | NP_000264.2:p.Thr232Lys |