Revel Score:
ENST00000357068 (MANE Select)
0.776
ENST00000313755
0.776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18918421A>T , CM000684.2:g.18918421A>T | GRCh38 |
| NC_000022.10:g.18905934A>T , CM000684.1:g.18905934A>T | GRCh37 |
| NC_000022.9:g.17285934A>T | NCBI36 |
| NG_008226.2:g.23133T>A | |
| NG_008226.3:g.23133T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357068.11:c.1322T>A MANE Select | ENSP00000349577.6:p.Leu441Gln | |
| ENST00000638240.1:c.513+7393A>T | ENSP00000492446.1:n.513+7393A>T | |
| ENST00000313755.9:n.2087T>A | ||
| ENST00000334029.6:c.998T>A | ENSP00000334726.2:p.Leu333Gln | |
| ENST00000357068.10:c.1322T>A | ENSP00000349577.6:p.Leu441Gln | |
| ENST00000420436.5:c.998T>A | ENSP00000410805.1:p.Leu333Gln | |
| ENST00000429300.5:n.1693T>A | ||
| ENST00000482858.5:n.3802T>A | ||
| ENST00000491604.5:n.2231T>A | ||
| ENST00000609229.1:n.2175T>A | ||
| ENST00000610940.4:c.1322T>A | ENSP00000480347.1:p.Leu441Gln | |
| NM_001195226.1:c.998T>A | NP_001182155.1:p.Leu333Gln | |
| NM_016335.4:c.1322T>A | NP_057419.4:p.Leu441Gln | |
| XM_011530278.1:c.749T>A | XP_011528580.1:p.Leu250Gln | |
| XM_011530279.1:c.542T>A | XP_011528581.1:p.Leu181Gln | |
| XR_937876.1:n.1389T>A | ||
| NM_001195226.2:c.998T>A | NP_001182155.2:p.Leu333Gln | |
| NM_016335.5:c.1322T>A | NP_057419.5:p.Leu441Gln | |
| NM_016335.6:c.1322T>A MANE Select | NP_057419.5:p.Leu441Gln |