Revel Score:
ENST00000375499 (MANE Select)
0.947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022648C>A , CM000663.2:g.17022648C>A | GRCh38 |
| NC_000001.10:g.17349143C>A , CM000663.1:g.17349143C>A | GRCh37 |
| NC_000001.9:g.17221730C>A | NCBI36 |
| NG_012340.1:g.36523G>T , LRG_316:g.36523G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.554G>T | ENSP00000481376.2:p.Arg185Leu | |
| ENST00000491274.6:c.683G>T | ENSP00000480482.2:p.Arg228Leu | |
| ENST00000375499.8:c.725G>T MANE Select | ENSP00000364649.3:p.Arg242Leu | |
| ENST00000375499.7:c.725G>T | ENSP00000364649.3:p.Arg242Leu | |
| ENST00000475049.5:n.150G>T | ||
| ENST00000485092.5:n.389G>T | ||
| ENST00000485515.5:n.659G>T | ||
| NM_003000.2:c.725G>T , LRG_316t1:c.725G>T | NP_002991.2:p.Arg242Leu | |
| NM_003000.3:c.725G>T MANE Select | NP_002991.2:p.Arg242Leu |