Revel Score:
ENST00000367429 (MANE Select)
0.203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747182C>T , CM000663.2:g.196747182C>T | GRCh38 |
| NC_000001.10:g.196716312C>T , CM000663.1:g.196716312C>T | GRCh37 |
| NC_000001.9:g.194982935C>T | NCBI36 |
| NG_007259.1:g.100172C>T , LRG_47:g.100172C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4593C>T | ||
| ENST00000695970.1:c.3391C>T | ENSP00000512297.1:p.Leu1131Phe | |
| ENST00000695971.1:c.3544C>T | ENSP00000512298.1:p.Leu1182Phe | |
| ENST00000695972.1:c.*642C>T | ENSP00000512299.1:n.*642C>T | |
| ENST00000695973.1:c.*1929C>T | ENSP00000512300.1:n.*1929C>T | |
| ENST00000695974.1:c.3388C>T | ENSP00000512301.1:p.Leu1130Phe | |
| ENST00000695975.1:c.*1692C>T | ENSP00000512302.1:n.*1692C>T | |
| ENST00000695976.1:c.3376C>T | ENSP00000512303.1:p.Leu1126Phe | |
| ENST00000695981.1:c.3565C>T | ENSP00000512306.1:p.Leu1189Phe | |
| ENST00000695984.1:c.1573C>T | ENSP00000512309.1:p.Leu525Phe | |
| ENST00000695986.1:c.*3216C>T | ENSP00000512311.1:n.*3216C>T | |
| ENST00000695990.1:n.599C>T | ||
| ENST00000696026.1:c.*1847C>T | ENSP00000512335.1:n.*1847C>T | |
| ENST00000696027.1:c.3559C>T | ENSP00000512336.1:p.Leu1187Phe | |
| ENST00000696028.1:c.3493C>T | ENSP00000512337.1:p.Leu1165Phe | |
| ENST00000696029.1:c.3559C>T | ENSP00000512338.1:p.Leu1187Phe | |
| ENST00000696031.1:c.*3083C>T | ENSP00000512340.1:n.*3083C>T | |
| ENST00000696032.1:c.3565C>T | ENSP00000512341.1:p.Leu1189Phe | |
| ENST00000696033.1:c.1160-32615C>T | ENSP00000512342.1:n.1160-32615C>T | |
| ENST00000367429.9:c.3565C>T MANE Select | ENSP00000356399.4:p.Leu1189Phe | |
| ENST00000367429.8:c.3565C>T | ENSP00000356399.4:p.Leu1189Phe | |
| ENST00000466229.5:n.6663C>T | ||
| NM_000186.3:c.3565C>T , LRG_47t1:c.3565C>T | NP_000177.2:p.Leu1189Phe | |
| XR_001737134.2:n.3751C>T | ||
| NM_000186.4:c.3565C>T MANE Select | NP_000177.2:p.Leu1189Phe |