Revel Score:
ENST00000398004 (MANE Select)
0.291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68746558T>A , CM000674.2:g.68746558T>A | GRCh38 |
| NC_000012.11:g.69140338T>A , CM000674.1:g.69140338T>A | GRCh37 |
| NC_000012.10:g.67426605T>A | NCBI36 |
| NG_046600.2:g.64608T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319429.7:n.424T>A | ||
| ENST00000398004.4:c.181T>A MANE Select | ENSP00000381089.2:p.Cys61Ser | |
| ENST00000673712.1:c.181T>A | ENSP00000501065.1:p.Cys61Ser | |
| ENST00000674096.1:c.181T>A | ENSP00000501130.1:p.Cys61Ser | |
| ENST00000398004.3:c.181T>A | ENSP00000381089.2:p.Cys61Ser | |
| NM_018656.2:c.181T>A | NP_061126.2:p.Cys61Ser | |
| XM_005269006.2:c.181T>A | XP_005269063.1:p.Cys61Ser | |
| NM_001354997.1:c.181T>A | NP_001341926.1:p.Cys61Ser | |
| NM_001354998.1:c.181T>A | NP_001341927.1:p.Cys61Ser | |
| NM_018656.3:c.181T>A | NP_061126.2:p.Cys61Ser | |
| NR_149143.1:n.473T>A | ||
| NR_149144.1:n.473T>A | ||
| NM_001354997.3:c.181T>A | NP_001341926.1:p.Cys61Ser | |
| NM_001354998.2:c.181T>A | NP_001341927.1:p.Cys61Ser | |
| NM_018656.5:c.181T>A MANE Select | NP_061126.2:p.Cys61Ser | |
| NR_149143.3:n.383T>A | ||
| NR_149144.3:n.383T>A |