Revel Score:
ENST00000357166 (MANE Select)
0.688
ENST00000371064
0.688
ENST00000406492
0.688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129829058A>G , CM000685.2:g.129829058A>G | GRCh38 |
| NC_000023.10:g.128963034A>G , CM000685.1:g.128963034A>G | GRCh37 |
| NC_000023.9:g.128790715A>G | NCBI36 |
| NG_021387.1:g.19877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357166.11:c.251T>C MANE Select | ENSP00000349689.6:p.Leu84Ser | |
| ENST00000357166.10:c.251T>C | ENSP00000349689.6:p.Leu84Ser | |
| ENST00000371064.7:c.251T>C | ENSP00000360103.3:p.Leu84Ser | |
| ENST00000406492.2:c.251T>C | ENSP00000383991.2:p.Leu84Ser | |
| ENST00000433917.5:c.130T>C | ||
| NM_001008222.2:c.251T>C | NP_001008223.1:p.Leu84Ser | |
| NM_016032.3:c.251T>C | NP_057116.2:p.Leu84Ser | |
| XM_011531347.1:c.251T>C | XP_011529649.1:p.Leu84Ser | |
| XM_011531348.1:c.251T>C | XP_011529650.1:p.Leu84Ser | |
| XM_011531348.3:c.251T>C | XP_011529650.1:p.Leu84Ser | |
| XR_001755694.2:n.645T>C | ||
| NM_016032.4:c.251T>C MANE Select | NP_057116.2:p.Leu84Ser | |
| NM_001008222.3:c.251T>C | NP_001008223.1:p.Leu84Ser |