Revel Score:
ENST00000230461 (MANE Select)
0.660
ENST00000545449
0.660
ENST00000370050
0.660
ENST00000475111
0.660
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75256290G>A , CM000668.2:g.75256290G>A | GRCh38 |
| NC_000006.11:g.75966006G>A , CM000668.1:g.75966006G>A | GRCh37 |
| NC_000006.10:g.76022726G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230461.11:c.898C>T MANE Select | ENSP00000230461.6:p.Pro300Ser | |
| ENST00000673730.1:c.682C>T | ENSP00000501250.1:p.Pro228Ser | |
| ENST00000673989.1:c.*656C>T | ENSP00000501172.1:n.*656C>T | |
| ENST00000674038.1:c.790C>T | ENSP00000501237.1:p.Pro264Ser | |
| ENST00000674104.1:c.*528C>T | ENSP00000501133.1:n.*528C>T | |
| ENST00000674151.1:c.541C>T | ENSP00000500998.1:p.Pro181Ser | |
| ENST00000230461.10:c.898C>T | ENSP00000230461.6:p.Pro300Ser | |
| ENST00000370050.9:c.541C>T | ENSP00000359067.5:p.Pro181Ser | |
| ENST00000475111.6:c.790C>T | ENSP00000431007.1:p.Pro264Ser | |
| NM_001143958.1:c.790C>T | NP_001137430.1:p.Pro264Ser | |
| NM_018247.3:c.898C>T | NP_060717.1:p.Pro300Ser | |
| NM_018247.4:c.898C>T MANE Select | NP_060717.1:p.Pro300Ser | |
| NM_001143958.2:c.790C>T | NP_001137430.1:p.Pro264Ser |