Revel Score:
ENST00000394936 (MANE Select)
0.919
ENST00000373120
0.919
ENST00000357471
0.919
ENST00000394934
0.919
ENST00000404083
0.919
ENST00000394940
0.919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71825892C>G , CM000672.2:g.71825892C>G | GRCh38 |
| NC_000010.10:g.73585649C>G , CM000672.1:g.73585649C>G | GRCh37 |
| NC_000010.9:g.73255655C>G | NCBI36 |
| NG_009301.1:g.30434G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.722G>C MANE Select | ENSP00000378394.3:p.Cys241Ser | |
| ENST00000394934.4:c.722G>C | ENSP00000378392.2:p.Cys241Ser | |
| ENST00000394936.7:c.722G>C | ENSP00000378394.3:p.Cys241Ser | |
| ENST00000610929.3:c.270+5339G>C | ENSP00000480857.1:n.270+5339G>C | |
| ENST00000633965.1:c.123G>C | ||
| NM_001042465.1:c.722G>C | NP_001035930.1:p.Cys241Ser | |
| NM_001042466.1:c.722G>C | NP_001035931.1:p.Cys241Ser | |
| NM_002778.2:c.722G>C | NP_002769.1:p.Cys241Ser | |
| NM_001042465.2:c.722G>C | NP_001035930.1:p.Cys241Ser | |
| NM_001042466.2:c.722G>C | NP_001035931.1:p.Cys241Ser | |
| NM_002778.3:c.722G>C | NP_002769.1:p.Cys241Ser | |
| NM_002778.4:c.722G>C MANE Select | NP_002769.1:p.Cys241Ser | |
| NM_001042465.3:c.722G>C | NP_001035930.1:p.Cys241Ser | |
| NM_001042466.3:c.722G>C | NP_001035931.1:p.Cys241Ser |