Revel Score:
ENST00000320580 (MANE Select)
0.498
ENST00000533756
0.498
ENST00000527380
0.498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211213T>C , CM000673.2:g.66211213T>C | GRCh38 |
| NC_000011.9:g.65978684T>C , CM000673.1:g.65978684T>C | GRCh37 |
| NC_000011.8:g.65735260T>C | NCBI36 |
| NG_033900.1:g.145861T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.614T>C MANE Select | ENSP00000316454.4:p.Ile205Thr | |
| ENST00000320580.8:c.614T>C | ENSP00000316454.4:p.Ile205Thr | |
| ENST00000527224.1:n.738T>C | ||
| ENST00000527380.1:c.320T>C | ENSP00000432639.1:p.Ile107Thr | |
| ENST00000533756.5:c.305T>C | ENSP00000437150.1:p.Ile102Thr | |
| NM_018026.3:c.614T>C | NP_060496.2:p.Ile205Thr | |
| XM_011545162.1:c.293T>C | XP_011543464.1:p.Ile98Thr | |
| XM_011545163.1:c.284T>C | XP_011543465.1:p.Ile95Thr | |
| XM_011545164.1:c.275T>C | XP_011543466.1:p.Ile92Thr | |
| XM_011545164.2:c.275T>C | XP_011543466.1:p.Ile92Thr | |
| XR_001747924.1:n.825T>C | ||
| NM_018026.4:c.614T>C MANE Select | NP_060496.2:p.Ile205Thr |