Revel Score:
ENST00000355710 (MANE Select)
0.341
ENST00000340058
0.341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43126647A>T , CM000672.2:g.43126647A>T | GRCh38 |
| NC_000010.10:g.43622095A>T , CM000672.1:g.43622095A>T | GRCh37 |
| NC_000010.9:g.42942101A>T | NCBI36 |
| NG_007489.1:g.54579A>T , LRG_518:g.54579A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2716A>T | ENSP00000480088.2:p.Thr906Ser | |
| ENST00000683007.1:n.2686A>T | ||
| ENST00000340058.6:c.3112A>T | ENSP00000344798.4:p.Thr1038Ser | |
| ENST00000355710.8:c.3112A>T MANE Select | ENSP00000347942.3:p.Thr1038Ser | |
| ENST00000671844.1:c.*1706A>T | ENSP00000500541.1:n.*1706A>T | |
| ENST00000672389.1:c.*1706A>T | ENSP00000500252.1:n.*1706A>T | |
| ENST00000340058.5:c.3112A>T | ENSP00000344798.4:p.Thr1038Ser | |
| ENST00000355710.7:c.3112A>T | ENSP00000347942.3:p.Thr1038Ser | |
| ENST00000615310.4:c.*461A>T | ENSP00000480088.1:n.*461A>T | |
| NM_020630.4:c.3112A>T , LRG_518t2:c.3112A>T | NP_065681.1:p.Thr1038Ser | |
| NM_020975.4:c.3112A>T , LRG_518t1:c.3112A>T | NP_066124.1:p.Thr1038Ser | |
| XM_011540027.1:c.3112A>T | XP_011538329.1:p.Thr1038Ser | |
| NM_001355216.1:c.2350A>T | NP_001342145.1:p.Thr784Ser | |
| NM_020630.5:c.3112A>T | NP_065681.1:p.Thr1038Ser | |
| NM_020975.5:c.3112A>T | NP_066124.1:p.Thr1038Ser | |
| NM_020975.6:c.3112A>T MANE Select | NP_066124.1:p.Thr1038Ser | |
| NM_020630.6:c.3112A>T | NP_065681.1:p.Thr1038Ser |