Revel Score:
ENST00000367429 (MANE Select)
0.219
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747276A>C , CM000663.2:g.196747276A>C | GRCh38 |
| NC_000001.10:g.196716406A>C , CM000663.1:g.196716406A>C | GRCh37 |
| NC_000001.9:g.194983029A>C | NCBI36 |
| NG_007259.1:g.100266A>C , LRG_47:g.100266A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4687A>C | ||
| ENST00000695970.1:c.3485A>C | ENSP00000512297.1:p.Asp1162Ala | |
| ENST00000695971.1:c.3638A>C | ENSP00000512298.1:p.Asp1213Ala | |
| ENST00000695972.1:c.*736A>C | ENSP00000512299.1:n.*736A>C | |
| ENST00000695973.1:c.*2023A>C | ENSP00000512300.1:n.*2023A>C | |
| ENST00000695974.1:c.3482A>C | ENSP00000512301.1:p.Asp1161Ala | |
| ENST00000695975.1:c.*1786A>C | ENSP00000512302.1:n.*1786A>C | |
| ENST00000695976.1:c.3470A>C | ENSP00000512303.1:p.Asp1157Ala | |
| ENST00000695981.1:c.3580+79A>C | ENSP00000512306.1:n.3580+79A>C | |
| ENST00000695984.1:c.1667A>C | ENSP00000512309.1:p.Asp556Ala | |
| ENST00000695986.1:c.*3310A>C | ENSP00000512311.1:n.*3310A>C | |
| ENST00000695990.1:n.693A>C | ||
| ENST00000696026.1:c.*1941A>C | ENSP00000512335.1:n.*1941A>C | |
| ENST00000696027.1:c.3653A>C | ENSP00000512336.1:p.Asp1218Ala | |
| ENST00000696028.1:c.3587A>C | ENSP00000512337.1:p.Asp1196Ala | |
| ENST00000696029.1:c.3653A>C | ENSP00000512338.1:p.Asp1218Ala | |
| ENST00000696031.1:c.*3177A>C | ENSP00000512340.1:n.*3177A>C | |
| ENST00000696032.1:c.3580+79A>C | ENSP00000512341.1:n.3580+79A>C | |
| ENST00000696033.1:c.1160-32521A>C | ENSP00000512342.1:n.1160-32521A>C | |
| ENST00000367429.9:c.3659A>C MANE Select | ENSP00000356399.4:p.Asp1220Ala | |
| ENST00000367429.8:c.3659A>C | ENSP00000356399.4:p.Asp1220Ala | |
| ENST00000466229.5:n.6757A>C | ||
| NM_000186.3:c.3659A>C , LRG_47t1:c.3659A>C | NP_000177.2:p.Asp1220Ala | |
| XR_001737134.2:n.3845A>C | ||
| NM_000186.4:c.3659A>C MANE Select | NP_000177.2:p.Asp1220Ala |