Revel Score:
ENST00000389857 (MANE Select)
0.360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91338154G>T , CM000676.2:g.91338154G>T | GRCh38 |
| NC_000014.8:g.91804498G>T , CM000676.1:g.91804498G>T | GRCh37 |
| NC_000014.7:g.90874251G>T | NCBI36 |
| NG_033118.1:g.84691C>A | |
| NG_033118.2:g.84691C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.901C>A MANE Select | ENSP00000374507.6:p.Leu301Ile | |
| ENST00000389857.10:c.901C>A | ENSP00000374507.6:p.Leu301Ile | |
| ENST00000554051.1:n.378C>A | ||
| NM_001080414.3:c.901C>A | NP_001073883.2:p.Leu301Ile | |
| XM_005267691.3:c.901C>A | XP_005267748.1:p.Leu301Ile | |
| XM_011536796.1:c.793C>A | XP_011535098.1:p.Leu265Ile | |
| XR_429316.2:n.1029C>A | ||
| XR_943459.1:n.1029C>A | ||
| XM_005267691.5:c.901C>A | XP_005267748.1:p.Leu301Ile | |
| XM_011536796.2:c.793C>A | XP_011535098.1:p.Leu265Ile | |
| XM_017021335.2:c.901C>A | XP_016876824.1:p.Leu301Ile | |
| XM_017021337.2:c.901C>A | XP_016876826.1:p.Leu301Ile | |
| XR_429316.4:n.1027C>A | ||
| NM_001080414.4:c.901C>A MANE Select | NP_001073883.2:p.Leu301Ile |