Revel Score:
ENST00000320868 (MANE Select)
0.847
ENST00000397797
0.847
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176957A>T , CM000678.2:g.176957A>T | GRCh38 |
| NC_000016.9:g.226956A>T , CM000678.1:g.226956A>T | GRCh37 |
| NC_000016.8:g.166956A>T | NCBI36 |
| NG_000006.1:g.37820A>T | |
| NG_059186.1:g.5307A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.124A>T MANE Select | ENSP00000322421.5:p.Thr42Ser | |
| ENST00000397797.1:c.28A>T | ENSP00000380899.1:p.Thr10Ser | |
| ENST00000472694.1:n.260A>T | ||
| ENST00000487791.1:n.93A>T | ||
| NM_000558.4:c.124A>T | NP_000549.1:p.Thr42Ser | |
| NM_000558.5:c.124A>T MANE Select | NP_000549.1:p.Thr42Ser |