Revel Score:
ENST00000261799 (MANE Select)
0.944
ENST00000544453
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150124300A>G , CM000667.2:g.150124300A>G | GRCh38 |
| NC_000005.9:g.149503863A>G , CM000667.1:g.149503863A>G | GRCh37 |
| NC_000005.8:g.149484056A>G | NCBI36 |
| NG_023367.1:g.36560T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.9:c.1973T>C MANE Select | ENSP00000261799.4:p.Leu658Pro | |
| ENST00000261799.8:c.1973T>C | ENSP00000261799.4:p.Leu658Pro | |
| ENST00000520229.1:n.608T>C | ||
| ENST00000520579.5:c.*1287T>C | ENSP00000430026.1:n.*1287T>C | |
| NM_002609.3:c.1973T>C | NP_002600.1:p.Leu658Pro | |
| XM_005268464.2:c.1781T>C | XP_005268521.1:p.Leu594Pro | |
| XM_011537658.1:c.1973T>C | XP_011535960.1:p.Leu658Pro | |
| XM_011537659.1:c.1973T>C | XP_011535961.1:p.Leu658Pro | |
| XM_011537660.1:c.1973T>C | XP_011535962.1:p.Leu658Pro | |
| NM_001355016.1:c.1781T>C | NP_001341945.1:p.Leu594Pro | |
| NM_001355017.1:c.1490T>C | NP_001341946.1:p.Leu497Pro | |
| NM_002609.4:c.1973T>C MANE Select | NP_002600.1:p.Leu658Pro | |
| NM_001355016.2:c.1781T>C | NP_001341945.1:p.Leu594Pro | |
| NM_001355017.2:c.1490T>C | NP_001341946.1:p.Leu497Pro |