Revel Score:
ENST00000296795 (MANE Select)
0.061
ENST00000542020
0.061
ENST00000504367
0.061
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186083063C>G , CM000666.2:g.186083063C>G | GRCh38 |
| NC_000004.11:g.187004217C>G , CM000666.1:g.187004217C>G | GRCh37 |
| NC_000004.10:g.187241211C>G | NCBI36 |
| NG_007278.1:g.18909C>G , LRG_117:g.18909C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508051.2:c.546C>G | ENSP00000513677.1:p.Phe182Leu | |
| ENST00000698351.1:c.864+513C>G | ENSP00000513674.1:n.864+513C>G | |
| ENST00000698352.1:c.*929C>G | ENSP00000513675.1:n.*929C>G | |
| ENST00000698353.1:n.1252C>G | ||
| ENST00000698354.1:c.546C>G | ENSP00000513676.1:p.Phe182Leu | |
| ENST00000296795.8:c.1377C>G MANE Select | ENSP00000296795.3:p.Phe459Leu | |
| ENST00000296795.7:c.1377C>G | ENSP00000296795.2:p.Phe459Leu | |
| ENST00000504367.1:c.546C>G | ENSP00000423684.1:p.Phe182Leu | |
| ENST00000512264.1:n.1453C>G | ||
| NM_003265.2:c.1377C>G , LRG_117t1:c.1377C>G | NP_003256.1:p.Phe459Leu | |
| NM_003265.3:c.1377C>G MANE Select | NP_003256.1:p.Phe459Leu |