Revel Score:
ENST00000520113 (MANE Select)
0.956
ENST00000369538
0.956
ENST00000353928
0.956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677917A>C , CM000663.2:g.114677917A>C | GRCh38 |
| NC_000001.10:g.115220538A>C , CM000663.1:g.115220538A>C | GRCh37 |
| NC_000001.9:g.115022061A>C | NCBI36 |
| NG_008012.1:g.22639T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1205T>G | ENSP00000358551.4:p.Ile402Ser | |
| ENST00000520113.7:c.1217T>G MANE Select | ENSP00000430075.3:p.Ile406Ser | |
| ENST00000637080.1:c.1000T>G | ENSP00000489753.1:n.1000T>G | |
| ENST00000639077.1:n.882T>G | ||
| ENST00000369538.3:c.1304T>G | ENSP00000358551.3:p.Ile435Ser | |
| ENST00000520113.6:c.1316T>G | ENSP00000430075.2:p.Ile439Ser | |
| NM_000036.2:c.1316T>G | NP_000027.2:p.Ile439Ser | |
| NM_001172626.1:c.1304T>G | NP_001166097.1:p.Ile435Ser | |
| NM_000036.3:c.1217T>G MANE Select | NP_000027.3:p.Ile406Ser | |
| NM_001172626.2:c.1205T>G | NP_001166097.2:p.Ile402Ser |