Revel Score:
ENST00000520113 (MANE Select)
0.814
ENST00000369538
0.814
ENST00000353928
0.814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677993G>T , CM000663.2:g.114677993G>T | GRCh38 |
| NC_000001.10:g.115220614G>T , CM000663.1:g.115220614G>T | GRCh37 |
| NC_000001.9:g.115022137G>T | NCBI36 |
| NG_008012.1:g.22563C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1129C>A | ENSP00000358551.4:p.Pro377Thr | |
| ENST00000520113.7:c.1141C>A MANE Select | ENSP00000430075.3:p.Pro381Thr | |
| ENST00000637080.1:c.924C>A | ENSP00000489753.1:n.924C>A | |
| ENST00000639077.1:n.806C>A | ||
| ENST00000369538.3:c.1228C>A | ENSP00000358551.3:p.Pro410Thr | |
| ENST00000520113.6:c.1240C>A | ENSP00000430075.2:p.Pro414Thr | |
| NM_000036.2:c.1240C>A | NP_000027.2:p.Pro414Thr | |
| NM_001172626.1:c.1228C>A | NP_001166097.1:p.Pro410Thr | |
| NM_000036.3:c.1141C>A MANE Select | NP_000027.3:p.Pro381Thr | |
| NM_001172626.2:c.1129C>A | NP_001166097.2:p.Pro377Thr |