Revel Score:
ENST00000311550 (MANE Select)
0.941
ENST00000541819
0.941
ENST00000299267
0.941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26772403A>C , CM000677.2:g.26772403A>C | GRCh38 |
| NC_000015.9:g.27017550A>C , CM000677.1:g.27017550A>C | GRCh37 |
| NC_000015.8:g.24568643A>C | NCBI36 |
| NG_012836.1:g.6378T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.239T>G | ENSP00000299267.4:p.Met80Arg | |
| ENST00000311550.10:c.239T>G MANE Select | ENSP00000308725.5:p.Met80Arg | |
| ENST00000638099.1:c.140T>G | ENSP00000490678.1:p.Met47Arg | |
| ENST00000299267.8:c.239T>G | ENSP00000299267.4:p.Met80Arg | |
| ENST00000311550.9:c.239T>G | ENSP00000308725.5:p.Met80Arg | |
| ENST00000541819.6:c.407T>G | ENSP00000442408.2:p.Met136Arg | |
| ENST00000554556.5:c.239T>G | ENSP00000451077.1:p.Met80Arg | |
| ENST00000554722.1:n.266T>G | ||
| ENST00000555632.5:c.239T>G | ENSP00000452041.1:p.Met80Arg | |
| ENST00000557641.5:n.611T>G | ||
| ENST00000622697.4:c.-113T>G | ENSP00000481004.1:n.-113T>G | |
| NM_000814.5:c.239T>G | NP_000805.1:p.Met80Arg | |
| NM_001278631.1:c.-113T>G | NP_001265560.1:n.-113T>G | |
| NM_021912.4:c.239T>G | NP_068712.1:p.Met80Arg | |
| NM_000814.6:c.239T>G MANE Select | NP_000805.1:p.Met80Arg | |
| NM_021912.5:c.239T>G | NP_068712.1:p.Met80Arg | |
| NM_001278631.2:c.-113T>G | NP_001265560.1:n.-113T>G |