Revel Score:
ENST00000326577 (MANE Select)
0.316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3021269T>C , CM000678.2:g.3021269T>C | GRCh38 |
| NC_000016.9:g.3071270T>C , CM000678.1:g.3071270T>C | GRCh37 |
| NC_000016.8:g.3011271T>C | NCBI36 |
| NG_052595.1:g.2251T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326577.9:c.149T>C MANE Select | ENSP00000326737.5:p.Met50Thr | |
| ENST00000326577.8:c.149T>C | ENSP00000326737.4:p.Met50Thr | |
| ENST00000341627.5:c.95-286T>C | ENSP00000343894.5:n.95-286T>C | |
| ENST00000571351.1:n.880T>C | ||
| ENST00000573001.5:c.2T>C | ENSP00000458898.1:p.Met1Thr | |
| ENST00000574699.1:c.175T>C | ENSP00000458305.1:p.Trp59Arg | |
| ENST00000575124.1:c.363-286T>C | ENSP00000460610.1:n.363-286T>C | |
| NM_016639.2:c.149T>C | NP_057723.1:p.Met50Thr | |
| NM_016639.3:c.149T>C MANE Select | NP_057723.1:p.Met50Thr |