Revel Score:
ENST00000367429 (MANE Select)
0.133
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747263A>T , CM000663.2:g.196747263A>T | GRCh38 |
| NC_000001.10:g.196716393A>T , CM000663.1:g.196716393A>T | GRCh37 |
| NC_000001.9:g.194983016A>T | NCBI36 |
| NG_007259.1:g.100253A>T , LRG_47:g.100253A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4674A>T | ||
| ENST00000695970.1:c.3472A>T | ENSP00000512297.1:p.Thr1158Ser | |
| ENST00000695971.1:c.3625A>T | ENSP00000512298.1:p.Thr1209Ser | |
| ENST00000695972.1:c.*723A>T | ENSP00000512299.1:n.*723A>T | |
| ENST00000695973.1:c.*2010A>T | ENSP00000512300.1:n.*2010A>T | |
| ENST00000695974.1:c.3469A>T | ENSP00000512301.1:p.Thr1157Ser | |
| ENST00000695975.1:c.*1773A>T | ENSP00000512302.1:n.*1773A>T | |
| ENST00000695976.1:c.3457A>T | ENSP00000512303.1:p.Thr1153Ser | |
| ENST00000695981.1:c.3580+66A>T | ENSP00000512306.1:n.3580+66A>T | |
| ENST00000695984.1:c.1654A>T | ENSP00000512309.1:p.Thr552Ser | |
| ENST00000695986.1:c.*3297A>T | ENSP00000512311.1:n.*3297A>T | |
| ENST00000695990.1:n.680A>T | ||
| ENST00000696026.1:c.*1928A>T | ENSP00000512335.1:n.*1928A>T | |
| ENST00000696027.1:c.3640A>T | ENSP00000512336.1:p.Thr1214Ser | |
| ENST00000696028.1:c.3574A>T | ENSP00000512337.1:p.Thr1192Ser | |
| ENST00000696029.1:c.3640A>T | ENSP00000512338.1:p.Thr1214Ser | |
| ENST00000696031.1:c.*3164A>T | ENSP00000512340.1:n.*3164A>T | |
| ENST00000696032.1:c.3580+66A>T | ENSP00000512341.1:n.3580+66A>T | |
| ENST00000696033.1:c.1160-32534A>T | ENSP00000512342.1:n.1160-32534A>T | |
| ENST00000367429.9:c.3646A>T MANE Select | ENSP00000356399.4:p.Thr1216Ser | |
| ENST00000367429.8:c.3646A>T | ENSP00000356399.4:p.Thr1216Ser | |
| ENST00000466229.5:n.6744A>T | ||
| NM_000186.3:c.3646A>T , LRG_47t1:c.3646A>T | NP_000177.2:p.Thr1216Ser | |
| XR_001737134.2:n.3832A>T | ||
| NM_000186.4:c.3646A>T MANE Select | NP_000177.2:p.Thr1216Ser |