Revel Score:
ENST00000367429 (MANE Select)
0.103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747111A>C , CM000663.2:g.196747111A>C | GRCh38 |
| NC_000001.10:g.196716241A>C , CM000663.1:g.196716241A>C | GRCh37 |
| NC_000001.9:g.194982864A>C | NCBI36 |
| NG_007259.1:g.100101A>C , LRG_47:g.100101A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4522A>C | ||
| ENST00000695970.1:c.3320A>C | ENSP00000512297.1:p.His1107Pro | |
| ENST00000695971.1:c.3473A>C | ENSP00000512298.1:p.His1158Pro | |
| ENST00000695972.1:c.*571A>C | ENSP00000512299.1:n.*571A>C | |
| ENST00000695973.1:c.*1858A>C | ENSP00000512300.1:n.*1858A>C | |
| ENST00000695974.1:c.3317A>C | ENSP00000512301.1:p.His1106Pro | |
| ENST00000695975.1:c.*1621A>C | ENSP00000512302.1:n.*1621A>C | |
| ENST00000695976.1:c.3305A>C | ENSP00000512303.1:p.His1102Pro | |
| ENST00000695981.1:c.3494A>C | ENSP00000512306.1:p.His1165Pro | |
| ENST00000695984.1:c.1502A>C | ENSP00000512309.1:p.His501Pro | |
| ENST00000695986.1:c.*3145A>C | ENSP00000512311.1:n.*3145A>C | |
| ENST00000695990.1:n.528A>C | ||
| ENST00000696026.1:c.*1776A>C | ENSP00000512335.1:n.*1776A>C | |
| ENST00000696027.1:c.3488A>C | ENSP00000512336.1:p.His1163Pro | |
| ENST00000696028.1:c.3422A>C | ENSP00000512337.1:p.His1141Pro | |
| ENST00000696029.1:c.3488A>C | ENSP00000512338.1:p.His1163Pro | |
| ENST00000696031.1:c.*3012A>C | ENSP00000512340.1:n.*3012A>C | |
| ENST00000696032.1:c.3494A>C | ENSP00000512341.1:p.His1165Pro | |
| ENST00000696033.1:c.1160-32686A>C | ENSP00000512342.1:n.1160-32686A>C | |
| ENST00000367429.9:c.3494A>C MANE Select | ENSP00000356399.4:p.His1165Pro | |
| ENST00000367429.8:c.3494A>C | ENSP00000356399.4:p.His1165Pro | |
| ENST00000466229.5:n.6592A>C | ||
| NM_000186.3:c.3494A>C , LRG_47t1:c.3494A>C | NP_000177.2:p.His1165Pro | |
| XR_001737134.2:n.3680A>C | ||
| NM_000186.4:c.3494A>C MANE Select | NP_000177.2:p.His1165Pro |