Revel Score:
ENST00000367429 (MANE Select)
0.053
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747264C>T , CM000663.2:g.196747264C>T | GRCh38 |
| NC_000001.10:g.196716394C>T , CM000663.1:g.196716394C>T | GRCh37 |
| NC_000001.9:g.194983017C>T | NCBI36 |
| NG_007259.1:g.100254C>T , LRG_47:g.100254C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4675C>T | ||
| ENST00000695970.1:c.3473C>T | ENSP00000512297.1:p.Thr1158Ile | |
| ENST00000695971.1:c.3626C>T | ENSP00000512298.1:p.Thr1209Ile | |
| ENST00000695972.1:c.*724C>T | ENSP00000512299.1:n.*724C>T | |
| ENST00000695973.1:c.*2011C>T | ENSP00000512300.1:n.*2011C>T | |
| ENST00000695974.1:c.3470C>T | ENSP00000512301.1:p.Thr1157Ile | |
| ENST00000695975.1:c.*1774C>T | ENSP00000512302.1:n.*1774C>T | |
| ENST00000695976.1:c.3458C>T | ENSP00000512303.1:p.Thr1153Ile | |
| ENST00000695981.1:c.3580+67C>T | ENSP00000512306.1:n.3580+67C>T | |
| ENST00000695984.1:c.1655C>T | ENSP00000512309.1:p.Thr552Ile | |
| ENST00000695986.1:c.*3298C>T | ENSP00000512311.1:n.*3298C>T | |
| ENST00000695990.1:n.681C>T | ||
| ENST00000696026.1:c.*1929C>T | ENSP00000512335.1:n.*1929C>T | |
| ENST00000696027.1:c.3641C>T | ENSP00000512336.1:p.Thr1214Ile | |
| ENST00000696028.1:c.3575C>T | ENSP00000512337.1:p.Thr1192Ile | |
| ENST00000696029.1:c.3641C>T | ENSP00000512338.1:p.Thr1214Ile | |
| ENST00000696031.1:c.*3165C>T | ENSP00000512340.1:n.*3165C>T | |
| ENST00000696032.1:c.3580+67C>T | ENSP00000512341.1:n.3580+67C>T | |
| ENST00000696033.1:c.1160-32533C>T | ENSP00000512342.1:n.1160-32533C>T | |
| ENST00000367429.9:c.3647C>T MANE Select | ENSP00000356399.4:p.Thr1216Ile | |
| ENST00000367429.8:c.3647C>T | ENSP00000356399.4:p.Thr1216Ile | |
| ENST00000466229.5:n.6745C>T | ||
| NM_000186.3:c.3647C>T , LRG_47t1:c.3647C>T | NP_000177.2:p.Thr1216Ile | |
| XR_001737134.2:n.3833C>T | ||
| NM_000186.4:c.3647C>T MANE Select | NP_000177.2:p.Thr1216Ile |