Revel Score:
ENST00000355485 (MANE Select)
0.852
ENST00000369510
0.852
ENST00000310260
0.852
ENST00000369509
0.852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115682372G>T , CM000663.2:g.115682372G>T | GRCh38 |
| NC_000001.10:g.116224993G>T , CM000663.1:g.116224993G>T | GRCh37 |
| NC_000001.9:g.116026516G>T | NCBI36 |
| NG_016548.1:g.45420G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355485.7:c.821G>T MANE Select | ENSP00000347672.2:p.Arg274Leu | |
| ENST00000310260.7:c.821G>T | ENSP00000310800.3:p.Arg274Leu | |
| ENST00000355485.6:c.821G>T | ENSP00000347672.2:p.Arg274Leu | |
| ENST00000369509.1:c.821G>T | ENSP00000358522.1:p.Arg274Leu | |
| ENST00000369510.8:c.815G>T | ENSP00000358523.3:p.Arg272Leu | |
| ENST00000474344.1:n.203G>T | ||
| ENST00000478369.5:n.105G>T | ||
| NM_001172411.1:c.815G>T | NP_001165882.1:p.Arg272Leu | |
| NM_001172412.1:c.821G>T | NP_001165883.1:p.Arg274Leu | |
| NM_138959.2:c.821G>T | NP_620409.1:p.Arg274Leu | |
| NM_138959.3:c.821G>T MANE Select | NP_620409.1:p.Arg274Leu | |
| NM_001172411.2:c.815G>T | NP_001165882.1:p.Arg272Leu | |
| NM_001172412.2:c.821G>T | NP_001165883.1:p.Arg274Leu |