Revel Score:
ENST00000520113 (MANE Select)
0.888
ENST00000369538
0.888
ENST00000353928
0.888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677975G>C , CM000663.2:g.114677975G>C | GRCh38 |
| NC_000001.10:g.115220596G>C , CM000663.1:g.115220596G>C | GRCh37 |
| NC_000001.9:g.115022119G>C | NCBI36 |
| NG_008012.1:g.22581C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1147C>G | ENSP00000358551.4:p.Leu383Val | |
| ENST00000520113.7:c.1159C>G MANE Select | ENSP00000430075.3:p.Leu387Val | |
| ENST00000637080.1:c.942C>G | ENSP00000489753.1:n.942C>G | |
| ENST00000639077.1:n.824C>G | ||
| ENST00000369538.3:c.1246C>G | ENSP00000358551.3:p.Leu416Val | |
| ENST00000520113.6:c.1258C>G | ENSP00000430075.2:p.Leu420Val | |
| NM_000036.2:c.1258C>G | NP_000027.2:p.Leu420Val | |
| NM_001172626.1:c.1246C>G | NP_001166097.1:p.Leu416Val | |
| NM_000036.3:c.1159C>G MANE Select | NP_000027.3:p.Leu387Val | |
| NM_001172626.2:c.1147C>G | NP_001166097.2:p.Leu383Val |