Revel Score:
ENST00000246337 (MANE Select)
0.920
ENST00000434478
0.920
ENST00000372135
0.920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45014017C>T , CM000663.2:g.45014017C>T | GRCh38 |
| NC_000001.10:g.45479689C>T , CM000663.1:g.45479689C>T | GRCh37 |
| NC_000001.9:g.45252276C>T | NCBI36 |
| NG_007122.2:g.6860C>T | |
| NG_033058.1:g.2339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246337.9:c.583C>T MANE Select | ENSP00000246337.4:p.Leu195Phe | |
| ENST00000434478.6:c.637C>T | ENSP00000404489.2:p.Leu213Phe | |
| ENST00000491773.6:c.478C>T | ENSP00000498551.1:p.Leu160Phe | |
| ENST00000636293.1:c.583C>T | ENSP00000490710.1:p.Leu195Phe | |
| ENST00000636836.1:c.583C>T | ENSP00000490594.1:p.Leu195Phe | |
| ENST00000651476.1:c.478C>T | ENSP00000498668.1:p.Leu160Phe | |
| ENST00000652165.1:c.478C>T | ENSP00000498295.1:p.Leu160Phe | |
| ENST00000652287.1:c.520C>T | ENSP00000498413.1:p.Leu174Phe | |
| ENST00000652514.1:c.544C>T | ENSP00000498635.1:n.544C>T | |
| ENST00000246337.8:c.583C>T | ENSP00000246337.4:p.Leu195Phe | |
| ENST00000428106.1:c.454+226C>T | ||
| ENST00000434478.5:c.520C>T | ENSP00000404489.1:p.Leu174Phe | |
| ENST00000460334.5:n.610C>T | ||
| ENST00000460906.5:n.717C>T | ||
| ENST00000462688.5:n.710C>T | ||
| ENST00000469548.5:n.779C>T | ||
| ENST00000473012.1:n.630C>T | ||
| ENST00000478467.5:n.586C>T | ||
| ENST00000486699.5:n.703C>T | ||
| ENST00000490385.5:n.657C>T | ||
| ENST00000491300.5:n.702C>T | ||
| ENST00000494399.5:n.723C>T | ||
| ENST00000496439.1:n.679C>T | ||
| NM_000374.4:c.583C>T | NP_000365.3:p.Leu195Phe | |
| NR_036510.1:n.766C>T | ||
| XM_005271169.1:c.367C>T | XP_005271226.1:p.Leu123Phe | |
| XM_005271170.1:c.367C>T | XP_005271227.1:p.Leu123Phe | |
| XM_011542080.1:c.520C>T | XP_011540382.1:p.Leu174Phe | |
| XM_011542081.1:c.415C>T | XP_011540383.1:p.Leu139Phe | |
| NM_000374.5:c.583C>T MANE Select | NP_000365.3:p.Leu195Phe | |
| NR_158184.1:n.664C>T | ||
| NR_158185.1:n.614C>T | ||
| NR_036510.2:n.645C>T |