Revel Score:
ENST00000338639 (MANE Select)
0.848
ENST00000493678
0.848
ENST00000377491
0.848
ENST00000377488
0.848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7984981T>C , CM000663.2:g.7984981T>C | GRCh38 |
| NC_000001.10:g.8045041T>C , CM000663.1:g.8045041T>C | GRCh37 |
| NC_000001.9:g.7967628T>C | NCBI36 |
| NG_008271.1:g.28328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.497T>C MANE Select | ENSP00000340278.5:p.Leu166Pro | |
| ENST00000338639.9:c.497T>C | ENSP00000340278.5:p.Leu166Pro | |
| ENST00000377488.5:c.497T>C | ENSP00000366708.1:p.Leu166Pro | |
| ENST00000377491.5:c.497T>C | ENSP00000366711.1:p.Leu166Pro | |
| ENST00000377493.9:c.437T>C | ENSP00000466242.1:p.Leu146Pro | |
| ENST00000469225.1:c.410T>C | ENSP00000466756.1:p.Leu137Pro | |
| ENST00000493373.5:c.497T>C | ENSP00000465404.1:p.Leu166Pro | |
| ENST00000493678.5:c.497T>C | ENSP00000418770.1:p.Leu166Pro | |
| NM_001123377.1:c.497T>C | NP_001116849.1:p.Leu166Pro | |
| NM_007262.4:c.497T>C | NP_009193.2:p.Leu166Pro | |
| XM_005263424.2:c.497T>C | XP_005263481.1:p.Leu166Pro | |
| XM_005263424.3:c.497T>C | XP_005263481.1:p.Leu166Pro | |
| NM_007262.5:c.497T>C MANE Select | NP_009193.2:p.Leu166Pro | |
| NM_001123377.2:c.497T>C | NP_001116849.1:p.Leu166Pro |