Revel Score:
ENST00000406757
0.046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133753622C>A , CM000685.2:g.133753622C>A | GRCh38 |
| NC_000023.10:g.132887649C>A , CM000685.1:g.132887649C>A | GRCh37 |
| NC_000023.9:g.132715315C>A | NCBI36 |
| NG_009286.1:g.237018G>T , LRG_505:g.237018G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406757.3:c.81G>T | ||
| ENST00000684880.1:c.*480G>T | ENSP00000510280.1:n.*480G>T | |
| ENST00000689310.1:c.844G>T | ENSP00000510438.1:p.Glu282Ter | |
| ENST00000692084.1:c.86G>T | ||
| ENST00000370818.8:c.892G>T MANE Select | ENSP00000359854.3:p.Glu298Ter | |
| ENST00000394299.7:c.892G>T | ENSP00000377836.2:p.Glu298Ter | |
| ENST00000666673.1:n.86G>T | ||
| ENST00000370818.7:c.892G>T | ENSP00000359854.3:p.Glu298Ter | |
| ENST00000394299.6:c.892G>T | ENSP00000377836.2:p.Glu298Ter | |
| ENST00000406757.2:c.81G>T | ||
| ENST00000631057.2:c.730G>T | ENSP00000486325.1:p.Glu244Ter | |
| NM_001164617.1:c.892G>T | NP_001158089.1:p.Glu298Ter | |
| NM_001164618.1:c.844G>T | NP_001158090.1:p.Glu282Ter | |
| NM_001164619.1:c.730G>T | NP_001158091.1:p.Glu244Ter | |
| NM_004484.3:c.892G>T , LRG_505t1:c.892G>T | NP_004475.1:p.Glu298Ter | |
| XM_017029413.2:c.892G>T | XP_016884902.1:p.Glu298Ter | |
| NM_001164617.2:c.892G>T | NP_001158089.1:p.Glu298Ter | |
| NM_001164618.2:c.844G>T | NP_001158090.1:p.Glu282Ter | |
| NM_001164619.2:c.730G>T | NP_001158091.1:p.Glu244Ter | |
| NM_004484.4:c.892G>T MANE Select | NP_004475.1:p.Glu298Ter |