Revel Score:
ENST00000342988 (MANE Select)
0.288
ENST00000544926
0.288
ENST00000398417
0.288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51054859C>T , CM000680.2:g.51054859C>T | GRCh38 |
| NC_000018.9:g.48581229C>T , CM000680.1:g.48581229C>T | GRCh37 |
| NC_000018.8:g.46835227C>T | NCBI36 |
| NG_013013.2:g.91820C>T , LRG_318:g.91820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.533C>T | ENSP00000465878.2:p.Ser178Leu | |
| ENST00000589076.6:c.533C>T | ENSP00000466934.2:p.Ser178Leu | |
| ENST00000589941.2:c.533C>T | ENSP00000465874.2:p.Ser178Leu | |
| ENST00000590061.2:c.533C>T | ENSP00000464772.2:p.Ser178Leu | |
| ENST00000593223.2:c.533C>T | ENSP00000466118.2:p.Ser178Leu | |
| ENST00000611848.2:c.533C>T | ENSP00000478613.2:p.Ser178Leu | |
| ENST00000684953.1:n.1905C>T | ||
| ENST00000688307.1:n.21C>T | ||
| ENST00000342988.8:c.533C>T MANE Select | ENSP00000341551.3:p.Ser178Leu | |
| ENST00000342988.7:c.533C>T | ENSP00000341551.3:p.Ser178Leu | |
| ENST00000398417.6:c.533C>T | ENSP00000381452.1:p.Ser178Leu | |
| ENST00000585448.1:n.402C>T | ||
| ENST00000588745.5:c.533C>T | ENSP00000464901.1:p.Ser178Leu | |
| ENST00000590722.2:c.*709C>T | ENSP00000465737.1:n.*709C>T | |
| ENST00000591126.5:n.2534C>T | ||
| ENST00000592186.5:c.533C>T | ENSP00000468611.1:p.Ser178Leu | |
| ENST00000592911.5:n.311C>T | ||
| NM_005359.5:c.533C>T , LRG_318t1:c.533C>T | NP_005350.1:p.Ser178Leu | |
| NM_005359.6:c.533C>T MANE Select | NP_005350.1:p.Ser178Leu |