Revel Score:
ENST00000366552
0.161
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241772884C>T , CM000663.2:g.241772884C>T | GRCh38 |
| NC_000001.10:g.241936186C>T , CM000663.1:g.241936186C>T | GRCh37 |
| NC_000001.9:g.240002809C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425826.3:c.*614C>T | ENSP00000406342.3:n.*614C>T | |
| ENST00000437684.7:c.2383C>T MANE Select | ENSP00000402446.4:p.Leu795Phe | |
| ENST00000366552.6:c.2353C>T | ENSP00000355510.2:p.Leu785Phe | |
| ENST00000414635.5:c.1318+6579C>T | ENSP00000406656.1:n.1318+6579C>T | |
| ENST00000425826.2:c.789C>T | ||
| ENST00000437684.6:c.1165+6579C>T | ENSP00000402446.3:n.1165+6579C>T | |
| ENST00000472717.6:c.1030C>T | ENSP00000431729.2:p.Leu344Phe | |
| ENST00000478331.1:n.366C>T | ||
| NM_144625.4:c.2353C>T | NP_653226.4:p.Leu785Phe | |
| XM_006711736.2:c.2383C>T | XP_006711799.1:p.Leu795Phe | |
| XM_011544084.1:c.1900C>T | XP_011542386.1:p.Leu634Phe | |
| XM_011544085.1:c.1900C>T | XP_011542387.1:p.Leu634Phe | |
| XM_011544086.1:c.1900C>T | XP_011542388.1:p.Leu634Phe | |
| XM_011544087.1:c.2383C>T | XP_011542389.1:p.Leu795Phe | |
| XM_011544088.1:c.1444C>T | XP_011542390.1:p.Leu482Phe | |
| XM_011544089.1:c.1390C>T | XP_011542391.1:p.Leu464Phe | |
| XM_011544090.1:c.1390C>T | XP_011542392.1:p.Leu464Phe | |
| XM_006711736.3:c.2383C>T | XP_006711799.1:p.Leu795Phe | |
| XM_011544086.3:c.1900C>T | XP_011542388.1:p.Leu634Phe | |
| XM_011544087.2:c.2383C>T | XP_011542389.1:p.Leu795Phe | |
| XM_017000315.1:c.2131C>T | XP_016855804.1:p.Leu711Phe | |
| NM_001367482.1:c.2383C>T MANE Select | NP_001354411.1:p.Leu795Phe |