Revel Score:
ENST00000330498 (MANE Select)
0.732
ENST00000419665
0.732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31484914C>A , CM000678.2:g.31484914C>A | GRCh38 |
| NC_000016.9:g.31496235C>A , CM000678.1:g.31496235C>A | GRCh37 |
| NC_000016.8:g.31403736C>A | NCBI36 |
| NG_012892.1:g.6797C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330498.4:c.294C>A MANE Select | ENSP00000327943.3:p.Phe98Leu | |
| ENST00000330498.3:c.294C>A | ENSP00000327943.3:p.Phe98Leu | |
| ENST00000419665.6:c.294C>A | ENSP00000410601.2:p.Phe98Leu | |
| ENST00000562006.1:n.293C>A | ||
| ENST00000565446.1:n.168C>A | ||
| ENST00000569576.5:c.165C>A | ENSP00000455143.1:p.Phe55Leu | |
| NM_003041.3:c.294C>A | NP_003032.1:p.Phe98Leu | |
| NR_130783.1:n.313C>A | ||
| XM_006721072.2:c.315C>A | XP_006721135.2:p.Phe105Leu | |
| XM_006721073.2:c.315C>A | XP_006721136.2:p.Phe105Leu | |
| XM_006721072.4:c.315C>A | XP_006721135.2:p.Phe105Leu | |
| XM_024450402.1:c.315C>A | XP_024306170.1:p.Phe105Leu | |
| NM_003041.4:c.294C>A MANE Select | NP_003032.1:p.Phe98Leu | |
| NR_130783.2:n.308C>A |