Revel Score:
ENST00000367429 (MANE Select)
0.065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747266A>T , CM000663.2:g.196747266A>T | GRCh38 |
| NC_000001.10:g.196716396A>T , CM000663.1:g.196716396A>T | GRCh37 |
| NC_000001.9:g.194983019A>T | NCBI36 |
| NG_007259.1:g.100256A>T , LRG_47:g.100256A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4677A>T | ||
| ENST00000695970.1:c.3475A>T | ENSP00000512297.1:p.Thr1159Ser | |
| ENST00000695971.1:c.3628A>T | ENSP00000512298.1:p.Thr1210Ser | |
| ENST00000695972.1:c.*726A>T | ENSP00000512299.1:n.*726A>T | |
| ENST00000695973.1:c.*2013A>T | ENSP00000512300.1:n.*2013A>T | |
| ENST00000695974.1:c.3472A>T | ENSP00000512301.1:p.Thr1158Ser | |
| ENST00000695975.1:c.*1776A>T | ENSP00000512302.1:n.*1776A>T | |
| ENST00000695976.1:c.3460A>T | ENSP00000512303.1:p.Thr1154Ser | |
| ENST00000695981.1:c.3580+69A>T | ENSP00000512306.1:n.3580+69A>T | |
| ENST00000695984.1:c.1657A>T | ENSP00000512309.1:p.Thr553Ser | |
| ENST00000695986.1:c.*3300A>T | ENSP00000512311.1:n.*3300A>T | |
| ENST00000695990.1:n.683A>T | ||
| ENST00000696026.1:c.*1931A>T | ENSP00000512335.1:n.*1931A>T | |
| ENST00000696027.1:c.3643A>T | ENSP00000512336.1:p.Thr1215Ser | |
| ENST00000696028.1:c.3577A>T | ENSP00000512337.1:p.Thr1193Ser | |
| ENST00000696029.1:c.3643A>T | ENSP00000512338.1:p.Thr1215Ser | |
| ENST00000696031.1:c.*3167A>T | ENSP00000512340.1:n.*3167A>T | |
| ENST00000696032.1:c.3580+69A>T | ENSP00000512341.1:n.3580+69A>T | |
| ENST00000696033.1:c.1160-32531A>T | ENSP00000512342.1:n.1160-32531A>T | |
| ENST00000367429.9:c.3649A>T MANE Select | ENSP00000356399.4:p.Thr1217Ser | |
| ENST00000367429.8:c.3649A>T | ENSP00000356399.4:p.Thr1217Ser | |
| ENST00000466229.5:n.6747A>T | ||
| NM_000186.3:c.3649A>T , LRG_47t1:c.3649A>T | NP_000177.2:p.Thr1217Ser | |
| XR_001737134.2:n.3835A>T | ||
| NM_000186.4:c.3649A>T MANE Select | NP_000177.2:p.Thr1217Ser |