Revel Score:
ENST00000367429 (MANE Select)
0.390
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747160A>T , CM000663.2:g.196747160A>T | GRCh38 |
| NC_000001.10:g.196716290A>T , CM000663.1:g.196716290A>T | GRCh37 |
| NC_000001.9:g.194982913A>T | NCBI36 |
| NG_007259.1:g.100150A>T , LRG_47:g.100150A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4571A>T | ||
| ENST00000695970.1:c.3369A>T | ENSP00000512297.1:p.Leu1123Phe | |
| ENST00000695971.1:c.3522A>T | ENSP00000512298.1:p.Leu1174Phe | |
| ENST00000695972.1:c.*620A>T | ENSP00000512299.1:n.*620A>T | |
| ENST00000695973.1:c.*1907A>T | ENSP00000512300.1:n.*1907A>T | |
| ENST00000695974.1:c.3366A>T | ENSP00000512301.1:p.Leu1122Phe | |
| ENST00000695975.1:c.*1670A>T | ENSP00000512302.1:n.*1670A>T | |
| ENST00000695976.1:c.3354A>T | ENSP00000512303.1:p.Leu1118Phe | |
| ENST00000695981.1:c.3543A>T | ENSP00000512306.1:p.Leu1181Phe | |
| ENST00000695984.1:c.1551A>T | ENSP00000512309.1:p.Leu517Phe | |
| ENST00000695986.1:c.*3194A>T | ENSP00000512311.1:n.*3194A>T | |
| ENST00000695990.1:n.577A>T | ||
| ENST00000696026.1:c.*1825A>T | ENSP00000512335.1:n.*1825A>T | |
| ENST00000696027.1:c.3537A>T | ENSP00000512336.1:p.Leu1179Phe | |
| ENST00000696028.1:c.3471A>T | ENSP00000512337.1:p.Leu1157Phe | |
| ENST00000696029.1:c.3537A>T | ENSP00000512338.1:p.Leu1179Phe | |
| ENST00000696031.1:c.*3061A>T | ENSP00000512340.1:n.*3061A>T | |
| ENST00000696032.1:c.3543A>T | ENSP00000512341.1:p.Leu1181Phe | |
| ENST00000696033.1:c.1160-32637A>T | ENSP00000512342.1:n.1160-32637A>T | |
| ENST00000367429.9:c.3543A>T MANE Select | ENSP00000356399.4:p.Leu1181Phe | |
| ENST00000367429.8:c.3543A>T | ENSP00000356399.4:p.Leu1181Phe | |
| ENST00000466229.5:n.6641A>T | ||
| NM_000186.3:c.3543A>T , LRG_47t1:c.3543A>T | NP_000177.2:p.Leu1181Phe | |
| XR_001737134.2:n.3729A>T | ||
| NM_000186.4:c.3543A>T MANE Select | NP_000177.2:p.Leu1181Phe |