Revel Score:
ENST00000263253 (MANE Select)
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41173768T>C , CM000684.2:g.41173768T>C | GRCh38 |
| NC_000022.10:g.41569772T>C , CM000684.1:g.41569772T>C | GRCh37 |
| NC_000022.9:g.39899718T>C | NCBI36 |
| NG_009817.1:g.86159T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*2683T>C | ENSP00000515365.1:n.*2683T>C | |
| ENST00000263253.9:c.4763T>C MANE Select | ENSP00000263253.7:p.Met1588Thr | |
| ENST00000674155.1:c.4685T>C | ENSP00000501078.1:p.Met1562Thr | |
| ENST00000263253.8:c.4763T>C | ENSP00000263253.7:p.Met1588Thr | |
| NM_001429.3:c.4763T>C | NP_001420.2:p.Met1588Thr | |
| XM_006724165.2:c.4685T>C | XP_006724228.1:p.Met1562Thr | |
| NM_001362843.1:c.4685T>C | NP_001349772.1:p.Met1562Thr | |
| NM_001429.4:c.4763T>C MANE Select | NP_001420.2:p.Met1588Thr | |
| NM_001362843.2:c.4685T>C | NP_001349772.1:p.Met1562Thr |