Revel Score:
ENST00000261799 (MANE Select)
0.944
ENST00000544453
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150124300A>T , CM000667.2:g.150124300A>T | GRCh38 |
| NC_000005.9:g.149503863A>T , CM000667.1:g.149503863A>T | GRCh37 |
| NC_000005.8:g.149484056A>T | NCBI36 |
| NG_023367.1:g.36560T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.9:c.1973T>A MANE Select | ENSP00000261799.4:p.Leu658His | |
| ENST00000261799.8:c.1973T>A | ENSP00000261799.4:p.Leu658His | |
| ENST00000520229.1:n.608T>A | ||
| ENST00000520579.5:c.*1287T>A | ENSP00000430026.1:n.*1287T>A | |
| NM_002609.3:c.1973T>A | NP_002600.1:p.Leu658His | |
| XM_005268464.2:c.1781T>A | XP_005268521.1:p.Leu594His | |
| XM_011537658.1:c.1973T>A | XP_011535960.1:p.Leu658His | |
| XM_011537659.1:c.1973T>A | XP_011535961.1:p.Leu658His | |
| XM_011537660.1:c.1973T>A | XP_011535962.1:p.Leu658His | |
| NM_001355016.1:c.1781T>A | NP_001341945.1:p.Leu594His | |
| NM_001355017.1:c.1490T>A | NP_001341946.1:p.Leu497His | |
| NM_002609.4:c.1973T>A MANE Select | NP_002600.1:p.Leu658His | |
| NM_001355016.2:c.1781T>A | NP_001341945.1:p.Leu594His | |
| NM_001355017.2:c.1490T>A | NP_001341946.1:p.Leu497His |