Revel Score:
ENST00000369770
0.983
ENST00000485317
0.983
ENST00000440270
0.983
ENST00000316361 (MANE Select)
0.983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.110603995A>G , CM000663.2:g.110603995A>G | GRCh38 |
| NC_000001.10:g.111146617A>G , CM000663.1:g.111146617A>G | GRCh37 |
| NC_000001.9:g.110948140A>G | NCBI36 |
| NG_027997.2:g.32480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316361.10:c.788T>C MANE Select | ENSP00000314520.4:p.Ile263Thr | |
| ENST00000485317.6:c.788T>C | ENSP00000433109.1:p.Ile263Thr | |
| ENST00000525120.2:n.361+1396T>C | ||
| ENST00000638477.2:c.26T>C | ENSP00000491354.1:p.Ile9Thr | |
| ENST00000638532.1:c.788T>C | ENSP00000491613.1:p.Ile263Thr | |
| ENST00000638616.2:c.788T>C | ENSP00000491977.1:p.Ile263Thr | |
| ENST00000639048.2:c.26T>C | ENSP00000491627.1:p.Ile9Thr | |
| ENST00000639227.1:n.556T>C | ||
| ENST00000639233.2:c.206T>C | ENSP00000492716.1:p.Ile69Thr | |
| ENST00000640450.1:n.896T>C | ||
| ENST00000640680.1:n.459+1396T>C | ||
| ENST00000640774.2:c.26T>C | ENSP00000492008.1:p.Ile9Thr | |
| ENST00000640956.1:c.422T>C | ENSP00000491647.1:p.Ile141Thr | |
| ENST00000675391.1:c.788T>C | ENSP00000502642.1:p.Ile263Thr | |
| ENST00000316361.8:c.788T>C | ENSP00000314520.4:p.Ile263Thr | |
| ENST00000369770.7:c.788T>C | ENSP00000358785.3:p.Ile263Thr | |
| ENST00000485317.5:c.788T>C | ENSP00000433109.1:p.Ile263Thr | |
| ENST00000633222.1:c.788T>C | ENSP00000487785.1:p.Ile263Thr | |
| NM_001204269.1:c.788T>C | NP_001191198.1:p.Ile263Thr | |
| NM_004974.3:c.788T>C | NP_004965.1:p.Ile263Thr | |
| XM_011541396.1:c.788T>C | XP_011539698.1:p.Ile263Thr | |
| XM_011541397.1:c.788T>C | XP_011539699.1:p.Ile263Thr | |
| XM_011541398.1:c.788T>C | XP_011539700.1:p.Ile263Thr | |
| XM_011541399.1:c.788T>C | XP_011539701.1:p.Ile263Thr | |
| XM_011541400.1:c.788T>C | XP_011539702.1:p.Ile263Thr | |
| XM_011541396.2:c.788T>C | XP_011539698.1:p.Ile263Thr | |
| XM_011541397.2:c.788T>C | XP_011539699.1:p.Ile263Thr | |
| XM_011541398.2:c.788T>C | XP_011539700.1:p.Ile263Thr | |
| XM_011541399.2:c.788T>C | XP_011539701.1:p.Ile263Thr | |
| XM_011541400.2:c.788T>C | XP_011539702.1:p.Ile263Thr | |
| XM_017001213.1:c.788T>C | XP_016856702.1:p.Ile263Thr | |
| NM_004974.4:c.788T>C MANE Select | NP_004965.1:p.Ile263Thr | |
| NM_001204269.2:c.788T>C | NP_001191198.1:p.Ile263Thr |