Revel Score:
ENST00000248553 (MANE Select)
0.907
ENST00000432276
0.907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303841C>G , CM000669.2:g.76303841C>G | GRCh38 |
| NC_000007.13:g.75933158C>G , CM000669.1:g.75933158C>G | GRCh37 |
| NC_000007.12:g.75771094C>G | NCBI36 |
| NG_008995.1:g.6284C>G , LRG_248:g.6284C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.404C>G MANE Select | ENSP00000248553.6:p.Ser135Cys | |
| ENST00000674547.1:c.404C>G | ENSP00000502461.1:p.Ser135Cys | |
| ENST00000674638.1:c.399C>G | ENSP00000502651.1:p.Leu133= | |
| ENST00000674650.1:c.365-143C>G | ENSP00000501628.1:n.365-143C>G | |
| ENST00000674965.1:c.*60C>G | ENSP00000501765.1:n.*60C>G | |
| ENST00000675134.1:c.404C>G | ENSP00000501831.1:p.Ser135Cys | |
| ENST00000675226.1:c.403C>G | ENSP00000502510.1:p.Pro135Ala | |
| ENST00000675417.1:n.637C>G | ||
| ENST00000675538.1:c.439C>G | ENSP00000502495.1:p.Pro147Ala | |
| ENST00000675906.1:c.404C>G | ENSP00000502714.1:p.Ser135Cys | |
| ENST00000676195.1:n.120C>G | ||
| ENST00000676231.1:c.434C>G | ENSP00000502249.1:p.Ser145Cys | |
| ENST00000248553.6:c.404C>G | ENSP00000248553.6:p.Ser135Cys | |
| ENST00000429938.1:c.-101C>G | ENSP00000405285.1:n.-101C>G | |
| ENST00000447574.1:c.*568C>G | ENSP00000414357.1:n.*568C>G | |
| NM_001540.3:c.404C>G , LRG_248t1:c.404C>G | NP_001531.1:p.Ser135Cys | |
| NM_001540.4:c.404C>G | NP_001531.1:p.Ser135Cys | |
| NM_001540.5:c.404C>G MANE Select | NP_001531.1:p.Ser135Cys |