Revel Score:
ENST00000394936 (MANE Select)
0.907
ENST00000373120
0.907
ENST00000357471
0.907
ENST00000394934
0.907
ENST00000404083
0.907
ENST00000394940
0.907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71825893A>T , CM000672.2:g.71825893A>T | GRCh38 |
| NC_000010.10:g.73585650A>T , CM000672.1:g.73585650A>T | GRCh37 |
| NC_000010.9:g.73255656A>T | NCBI36 |
| NG_009301.1:g.30433T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394936.8:c.721T>A MANE Select | ENSP00000378394.3:p.Cys241Ser | |
| ENST00000394934.4:c.721T>A | ENSP00000378392.2:p.Cys241Ser | |
| ENST00000394936.7:c.721T>A | ENSP00000378394.3:p.Cys241Ser | |
| ENST00000610929.3:c.270+5338T>A | ENSP00000480857.1:n.270+5338T>A | |
| ENST00000633965.1:c.122T>A | ||
| NM_001042465.1:c.721T>A | NP_001035930.1:p.Cys241Ser | |
| NM_001042466.1:c.721T>A | NP_001035931.1:p.Cys241Ser | |
| NM_002778.2:c.721T>A | NP_002769.1:p.Cys241Ser | |
| NM_001042465.2:c.721T>A | NP_001035930.1:p.Cys241Ser | |
| NM_001042466.2:c.721T>A | NP_001035931.1:p.Cys241Ser | |
| NM_002778.3:c.721T>A | NP_002769.1:p.Cys241Ser | |
| NM_002778.4:c.721T>A MANE Select | NP_002769.1:p.Cys241Ser | |
| NM_001042465.3:c.721T>A | NP_001035930.1:p.Cys241Ser | |
| NM_001042466.3:c.721T>A | NP_001035931.1:p.Cys241Ser |