Revel Score:
ENST00000536656
0.694
ENST00000377346 (MANE Select)
0.694
ENST00000361110
0.694
ENST00000360563
0.694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9722571G>T , CM000663.2:g.9722571G>T | GRCh38 |
| NC_000001.10:g.9782629G>T , CM000663.1:g.9782629G>T | GRCh37 |
| NC_000001.9:g.9705216G>T | NCBI36 |
| NG_023434.1:g.75840G>T , LRG_191:g.75840G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481137.2:c.*1645G>T | ENSP00000513886.1:n.*1645G>T | |
| ENST00000698709.1:c.2295G>T | ENSP00000513887.1:p.Met765Ile | |
| ENST00000698710.1:c.2388G>T | ENSP00000513888.1:p.Met796Ile | |
| ENST00000698712.1:c.2391G>T | ENSP00000513889.1:p.Met797Ile | |
| ENST00000698713.1:c.2391G>T | ENSP00000513890.1:p.Met797Ile | |
| ENST00000698714.1:c.2247G>T | ENSP00000513891.1:p.Met749Ile | |
| ENST00000698715.1:c.2388G>T | ENSP00000513892.1:p.Met796Ile | |
| ENST00000698716.1:c.2379G>T | ENSP00000513893.1:p.Met793Ile | |
| ENST00000698718.1:n.1634G>T | ||
| ENST00000698719.1:n.693G>T | ||
| ENST00000377346.9:c.2391G>T MANE Select | ENSP00000366563.4:p.Met797Ile | |
| ENST00000361110.6:c.2463G>T | ENSP00000354410.2:p.Met821Ile | |
| ENST00000377346.8:c.2391G>T | ENSP00000366563.4:p.Met797Ile | |
| ENST00000536656.5:c.2463G>T | ENSP00000446444.2:p.Met821Ile | |
| ENST00000543390.2:c.2463G>T | ENSP00000443811.2:p.Met821Ile | |
| ENST00000628140.2:c.2463G>T | ENSP00000486826.1:p.Met821Ile | |
| NM_005026.3:c.2391G>T , LRG_191t1:c.2391G>T | NP_005017.3:p.Met797Ile | |
| XM_005263473.1:c.2388G>T | XP_005263530.1:p.Met796Ile | |
| XM_006710686.1:c.2391G>T | XP_006710749.1:p.Met797Ile | |
| XM_006710687.1:c.2391G>T | XP_006710750.1:p.Met797Ile | |
| XM_006710688.1:c.2391G>T | XP_006710751.1:p.Met797Ile | |
| XM_006710689.1:c.2391G>T | XP_006710752.1:p.Met797Ile | |
| XM_006710690.1:c.2304G>T | XP_006710753.1:p.Met768Ile | |
| XM_011541581.1:c.2391G>T | XP_011539883.1:p.Met797Ile | |
| XM_011541582.1:c.2247G>T | XP_011539884.1:p.Met749Ile | |
| XM_011541583.1:c.1743G>T | XP_011539885.1:p.Met581Ile | |
| XR_946667.1:n.2600G>T | ||
| NM_001350234.1:c.2388G>T | NP_001337163.1:p.Met796Ile | |
| NM_001350235.1:c.2304G>T | NP_001337164.1:p.Met768Ile | |
| NM_005026.4:c.2391G>T | NP_005017.3:p.Met797Ile | |
| XM_006710687.2:c.2391G>T | XP_006710750.1:p.Met797Ile | |
| XM_006710689.2:c.2391G>T | XP_006710752.1:p.Met797Ile | |
| XM_017001476.1:c.2568G>T | XP_016856965.1:p.Met856Ile | |
| XM_017001477.1:c.2568G>T | XP_016856966.1:p.Met856Ile | |
| XM_017001478.1:c.2568G>T | XP_016856967.1:p.Met856Ile | |
| XM_017001479.1:c.2568G>T | XP_016856968.1:p.Met856Ile | |
| XM_017001480.1:c.2568G>T | XP_016856969.1:p.Met856Ile | |
| XM_017001481.1:c.2568G>T | XP_016856970.1:p.Met856Ile | |
| XM_017001482.2:c.2568G>T | XP_016856971.1:p.Met856Ile | |
| XM_017001483.2:c.2481G>T | XP_016856972.1:p.Met827Ile | |
| XM_024447661.1:c.2568G>T | XP_024303429.1:p.Met856Ile | |
| XM_024447663.1:c.2388G>T | XP_024303431.1:p.Met796Ile | |
| XM_024447664.1:c.2304G>T | XP_024303432.1:p.Met768Ile | |
| XR_002956806.1:n.2600G>T | ||
| NM_001350234.2:c.2388G>T | NP_001337163.1:p.Met796Ile | |
| NM_005026.5:c.2391G>T MANE Select | NP_005017.3:p.Met797Ile |