Revel Score:
ENST00000370803 (MANE Select)
0.488
ENST00000332070
0.488
ENST00000394292
0.488
ENST00000370799
0.488
ENST00000416404
0.488
ENST00000370800
0.488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134415063A>T , CM000685.2:g.134415063A>T | GRCh38 |
| NC_000023.10:g.133549093A>T , CM000685.1:g.133549093A>T | GRCh37 |
| NC_000023.9:g.133376759A>T | NCBI36 |
| NG_008886.1:g.46752A>T , LRG_629:g.46752A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*696A>T | ENSP00000510193.1:n.*696A>T | |
| ENST00000687496.1:c.675A>T | ENSP00000509551.1:p.Glu225Asp | |
| ENST00000688598.1:c.675A>T | ENSP00000510410.1:p.Glu225Asp | |
| ENST00000691812.1:c.777A>T | ENSP00000510211.1:p.Glu259Asp | |
| ENST00000693759.1:c.*389A>T | ENSP00000509518.1:n.*389A>T | |
| ENST00000370803.8:c.777A>T MANE Select | ENSP00000359839.4:p.Glu259Asp | |
| ENST00000332070.7:c.777A>T | ENSP00000329097.3:p.Glu259Asp | |
| ENST00000370799.5:c.780A>T | ENSP00000359835.1:p.Glu260Asp | |
| ENST00000370800.4:c.780A>T | ENSP00000359836.4:p.Glu260Asp | |
| ENST00000370803.7:c.777A>T | ENSP00000359839.3:p.Glu259Asp | |
| ENST00000625464.2:c.780A>T | ENSP00000487420.1:p.Glu260Asp | |
| NM_001015877.1:c.777A>T , LRG_629t1:c.777A>T | NP_001015877.1:p.Glu259Asp | |
| NM_032335.3:c.780A>T , LRG_629t2:c.780A>T | NP_115711.2:p.Glu260Asp | |
| NM_032458.2:c.777A>T | NP_115834.1:p.Glu259Asp | |
| NM_001015877.2:c.777A>T MANE Select | NP_001015877.1:p.Glu259Asp | |
| NM_032458.3:c.777A>T | NP_115834.1:p.Glu259Asp |