Revel Score:
ENST00000356231 (MANE Select)
0.739
ENST00000267892
0.739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42736717A>G , CM000677.2:g.42736717A>G | GRCh38 |
| NC_000015.9:g.43028915A>G , CM000677.1:g.43028915A>G | GRCh37 |
| NC_000015.8:g.40816207A>G | NCBI36 |
| NG_012491.1:g.5503T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.154T>C MANE Select | ENSP00000348564.3:p.Phe52Leu | |
| ENST00000643434.1:c.90+296T>C | ENSP00000494699.1:n.90+296T>C | |
| ENST00000356231.3:c.154T>C | ENSP00000348564.3:p.Phe52Leu | |
| ENST00000563260.1:c.130T>C | ENSP00000455536.1:p.Phe44Leu | |
| NM_138477.2:c.154T>C | NP_612486.2:p.Phe52Leu | |
| XM_005254176.3:c.154T>C | XP_005254233.1:p.Phe52Leu | |
| XM_011521270.1:c.178T>C | XP_011519572.1:p.Phe60Leu | |
| XM_011521271.1:c.178T>C | XP_011519573.1:p.Phe60Leu | |
| XM_011521272.1:c.178T>C | XP_011519574.1:p.Phe60Leu | |
| XM_011521273.1:c.178T>C | XP_011519575.1:p.Phe60Leu | |
| XM_011521275.1:c.-191+296T>C | XP_011519577.1:n.-191+296T>C | |
| XR_931757.1:n.189T>C | ||
| NM_138477.4:c.154T>C MANE Select | NP_612486.2:p.Phe52Leu | |
| XM_005254176.5:c.154T>C | XP_005254233.1:p.Phe52Leu | |
| XM_011521270.2:c.178T>C | XP_011519572.1:p.Phe60Leu | |
| XM_011521271.2:c.178T>C | XP_011519573.1:p.Phe60Leu | |
| XR_001751104.1:n.208T>C | ||
| XR_001751105.1:n.208T>C | ||
| XR_931757.2:n.209T>C |