Revel Score:
ENST00000367429 (MANE Select)
0.243
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747195C>T , CM000663.2:g.196747195C>T | GRCh38 |
| NC_000001.10:g.196716325C>T , CM000663.1:g.196716325C>T | GRCh37 |
| NC_000001.9:g.194982948C>T | NCBI36 |
| NG_007259.1:g.100185C>T , LRG_47:g.100185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4606C>T | ||
| ENST00000695970.1:c.3404C>T | ENSP00000512297.1:p.Thr1135Ile | |
| ENST00000695971.1:c.3557C>T | ENSP00000512298.1:p.Thr1186Ile | |
| ENST00000695972.1:c.*655C>T | ENSP00000512299.1:n.*655C>T | |
| ENST00000695973.1:c.*1942C>T | ENSP00000512300.1:n.*1942C>T | |
| ENST00000695974.1:c.3401C>T | ENSP00000512301.1:p.Thr1134Ile | |
| ENST00000695975.1:c.*1705C>T | ENSP00000512302.1:n.*1705C>T | |
| ENST00000695976.1:c.3389C>T | ENSP00000512303.1:p.Thr1130Ile | |
| ENST00000695981.1:c.3578C>T | ENSP00000512306.1:p.Thr1193Ile | |
| ENST00000695984.1:c.1586C>T | ENSP00000512309.1:p.Thr529Ile | |
| ENST00000695986.1:c.*3229C>T | ENSP00000512311.1:n.*3229C>T | |
| ENST00000695990.1:n.612C>T | ||
| ENST00000696026.1:c.*1860C>T | ENSP00000512335.1:n.*1860C>T | |
| ENST00000696027.1:c.3572C>T | ENSP00000512336.1:p.Thr1191Ile | |
| ENST00000696028.1:c.3506C>T | ENSP00000512337.1:p.Thr1169Ile | |
| ENST00000696029.1:c.3572C>T | ENSP00000512338.1:p.Thr1191Ile | |
| ENST00000696031.1:c.*3096C>T | ENSP00000512340.1:n.*3096C>T | |
| ENST00000696032.1:c.3578C>T | ENSP00000512341.1:p.Thr1193Ile | |
| ENST00000696033.1:c.1160-32602C>T | ENSP00000512342.1:n.1160-32602C>T | |
| ENST00000367429.9:c.3578C>T MANE Select | ENSP00000356399.4:p.Thr1193Ile | |
| ENST00000367429.8:c.3578C>T | ENSP00000356399.4:p.Thr1193Ile | |
| ENST00000466229.5:n.6676C>T | ||
| NM_000186.3:c.3578C>T , LRG_47t1:c.3578C>T | NP_000177.2:p.Thr1193Ile | |
| XR_001737134.2:n.3764C>T | ||
| NM_000186.4:c.3578C>T MANE Select | NP_000177.2:p.Thr1193Ile |