Revel Score:
ENST00000220531 (MANE Select)
0.190
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45592161G>C , CM000677.2:g.45592161G>C | GRCh38 |
| NC_000015.9:g.45884359G>C , CM000677.1:g.45884359G>C | GRCh37 |
| NC_000015.8:g.43671651G>C | NCBI36 |
| NG_028194.2:g.9943G>C , LRG_883:g.9943G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220531.9:c.109G>C MANE Select | ENSP00000220531.4:p.Gly37Arg | |
| ENST00000564310.2:c.42G>C | ||
| ENST00000565323.6:c.124G>C | ENSP00000456851.1:p.Gly42Arg | |
| ENST00000672455.1:c.*83G>C | ENSP00000500302.1:n.*83G>C | |
| ENST00000220531.7:c.109G>C | ENSP00000220531.3:p.Gly37Arg | |
| ENST00000562384.5:c.-80+4636G>C | ENSP00000457077.1:n.-80+4636G>C | |
| ENST00000563000.5:n.237+4365G>C | ||
| ENST00000563160.5:n.78G>C | ||
| ENST00000564080.1:c.-18+4636G>C | ENSP00000455047.1:n.-18+4636G>C | |
| ENST00000564310.1:c.38G>C | ||
| ENST00000564765.1:c.-183G>C | ENSP00000454537.1:n.-183G>C | |
| ENST00000565216.5:c.82+4636G>C | ENSP00000456067.1:n.82+4636G>C | |
| ENST00000565323.5:c.124G>C | ENSP00000456851.1:p.Gly42Arg | |
| ENST00000565409.5:c.-183G>C | ENSP00000455599.1:n.-183G>C | |
| ENST00000565727.5:n.105+4285G>C | ||
| ENST00000566184.1:n.147+4636G>C | ||
| ENST00000566753.5:c.109G>C | ENSP00000457478.1:p.Gly37Arg | |
| ENST00000566801.5:c.-68+4365G>C | ENSP00000454715.1:n.-68+4365G>C | |
| ENST00000567461.5:c.-68+4636G>C | ENSP00000456152.1:n.-68+4636G>C | |
| ENST00000567523.5:c.109G>C | ENSP00000456624.1:p.Gly37Arg | |
| ENST00000567740.5:n.312+4636G>C | ||
| ENST00000568597.5:c.109G>C | ENSP00000454638.1:p.Gly37Arg | |
| ENST00000568816.5:c.-357G>C | ENSP00000455021.1:n.-357G>C | |
| ENST00000568963.5:c.82+4636G>C | ENSP00000454438.1:n.82+4636G>C | |
| ENST00000569076.5:c.-44+4636G>C | ENSP00000454803.1:n.-44+4636G>C | |
| NM_001311255.1:c.124G>C | NP_001298184.1:p.Gly42Arg | |
| NM_001311256.1:c.124G>C | NP_001298185.1:p.Gly42Arg | |
| NM_012388.2:c.109G>C | NP_036520.1:p.Gly37Arg | |
| NM_012388.3:c.109G>C , LRG_883t1:c.109G>C | NP_036520.1:p.Gly37Arg | |
| NR_132350.1:n.264G>C | ||
| NR_132351.1:n.430G>C | ||
| NR_132352.1:n.430G>C | ||
| NR_132353.1:n.403+4636G>C | ||
| NR_132354.1:n.403+4636G>C | ||
| NR_132355.1:n.403+4636G>C | ||
| NR_132356.1:n.132G>C | ||
| NR_132357.1:n.132G>C | ||
| NR_132358.1:n.237+4365G>C | ||
| NR_132359.1:n.105+4285G>C | ||
| NM_012388.4:c.109G>C MANE Select | NP_036520.1:p.Gly37Arg | |
| NR_132351.2:n.174G>C | ||
| NR_132352.2:n.174G>C | ||
| NR_132355.2:n.147+4636G>C | ||
| NR_132356.2:n.132G>C | ||
| NR_132357.2:n.132G>C | ||
| NR_132359.2:n.105+4285G>C |