Revel Score:
ENST00000330498 (MANE Select)
0.933
ENST00000419665
0.933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31484912T>C , CM000678.2:g.31484912T>C | GRCh38 |
| NC_000016.9:g.31496233T>C , CM000678.1:g.31496233T>C | GRCh37 |
| NC_000016.8:g.31403734T>C | NCBI36 |
| NG_012892.1:g.6795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330498.4:c.292T>C MANE Select | ENSP00000327943.3:p.Phe98Leu | |
| ENST00000330498.3:c.292T>C | ENSP00000327943.3:p.Phe98Leu | |
| ENST00000419665.6:c.292T>C | ENSP00000410601.2:p.Phe98Leu | |
| ENST00000562006.1:n.291T>C | ||
| ENST00000565446.1:n.166T>C | ||
| ENST00000569576.5:c.163T>C | ENSP00000455143.1:p.Phe55Leu | |
| NM_003041.3:c.292T>C | NP_003032.1:p.Phe98Leu | |
| NR_130783.1:n.311T>C | ||
| XM_006721072.2:c.313T>C | XP_006721135.2:p.Phe105Leu | |
| XM_006721073.2:c.313T>C | XP_006721136.2:p.Phe105Leu | |
| XM_006721072.4:c.313T>C | XP_006721135.2:p.Phe105Leu | |
| XM_024450402.1:c.313T>C | XP_024306170.1:p.Phe105Leu | |
| NM_003041.4:c.292T>C MANE Select | NP_003032.1:p.Phe98Leu | |
| NR_130783.2:n.306T>C |