Revel Score:
ENST00000540732
0.885
ENST00000269980 (MANE Select)
0.885
ENST00000542943
0.885
ENST00000457836
0.885
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422704C>T , CM000681.2:g.41422704C>T | GRCh38 |
| NC_000019.9:g.41928609C>T , CM000681.1:g.41928609C>T | GRCh37 |
| NC_000019.8:g.46620449C>T | NCBI36 |
| NG_013004.1:g.29916C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.929C>T MANE Select | ENSP00000269980.2:p.Thr310Ile | |
| ENST00000269980.6:c.929C>T | ENSP00000269980.2:p.Thr310Ile | |
| ENST00000457836.6:c.863C>T | ENSP00000416000.2:p.Thr288Ile | |
| ENST00000535632.5:n.558C>T | ||
| ENST00000540732.3:c.1031C>T | ENSP00000443246.1:p.Thr344Ile | |
| ENST00000542943.5:c.842C>T | ENSP00000440345.1:p.Thr281Ile | |
| ENST00000545787.1:n.557C>T | ||
| ENST00000595085.5:c.922+7C>T | ENSP00000471150.2:n.922+7C>T | |
| NM_000709.3:c.929C>T | NP_000700.1:p.Thr310Ile | |
| NM_001164783.1:c.926C>T | NP_001158255.1:p.Thr309Ile | |
| NM_000709.4:c.929C>T MANE Select | NP_000700.1:p.Thr310Ile | |
| NM_001164783.2:c.926C>T | NP_001158255.1:p.Thr309Ile |