Revel Score:
ENST00000344327 (MANE Select)
0.392
ENST00000532133
0.392
ENST00000348423
0.392
ENST00000360497
0.392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101469476A>G , CM000673.2:g.101469476A>G | GRCh38 |
| NC_000011.9:g.101340207A>G , CM000673.1:g.101340207A>G | GRCh37 |
| NC_000011.8:g.100845417A>G | NCBI36 |
| NG_011476.1:g.119453T>C | |
| NG_011476.2:g.119453T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2435T>C MANE Select | ENSP00000340913.3:p.Ile812Thr | |
| ENST00000344327.7:c.2435T>C | ENSP00000340913.3:p.Ile812Thr | |
| ENST00000348423.8:c.2087T>C | ENSP00000343672.4:p.Ile696Thr | |
| ENST00000360497.4:c.2270T>C | ENSP00000353687.4:p.Ile757Thr | |
| ENST00000532133.5:c.2201T>C | ENSP00000435574.1:p.Ile734Thr | |
| NM_004621.5:c.2435T>C | NP_004612.2:p.Ile812Thr | |
| XM_006718898.2:c.2409+1707T>C | XP_006718961.1:n.2409+1707T>C | |
| XM_011542968.1:c.2270T>C | XP_011541270.1:p.Ile757Thr | |
| XM_011542969.1:c.2435T>C | XP_011541271.1:p.Ile812Thr | |
| XM_011542968.3:c.2270T>C | XP_011541270.1:p.Ile757Thr | |
| XM_017018221.2:c.2087T>C | XP_016873710.1:p.Ile696Thr | |
| XR_001747948.2:n.2791T>C | ||
| NM_004621.6:c.2435T>C MANE Select | NP_004612.2:p.Ile812Thr |