Revel Score:
ENST00000329464 (MANE Select)
0.218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44755305A>C , CM000677.2:g.44755305A>C | GRCh38 |
| NC_000015.9:g.45047503A>C , CM000677.1:g.45047503A>C | GRCh37 |
| NC_000015.8:g.42834795A>C | NCBI36 |
| NG_033935.1:g.23944A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329464.9:c.412A>C MANE Select | ENSP00000332284.3:p.Lys138Gln | |
| ENST00000329464.8:c.412A>C | ENSP00000332284.3:p.Lys138Gln | |
| ENST00000338264.8:c.7-1063A>C | ENSP00000342922.4:n.7-1063A>C | |
| ENST00000558173.5:n.2388A>C | ||
| ENST00000558329.5:c.-137-1063A>C | ENSP00000453332.1:n.-137-1063A>C | |
| ENST00000559390.5:c.412A>C | ENSP00000453177.1:p.Lys138Gln | |
| ENST00000560442.5:c.-137-1063A>C | ENSP00000453549.1:n.-137-1063A>C | |
| ENST00000561043.5:c.7-1063A>C | ENSP00000453077.1:n.7-1063A>C | |
| NM_001301144.1:c.-137-1063A>C | NP_001288073.1:n.-137-1063A>C | |
| NM_001301145.1:c.-137-1063A>C | NP_001288074.1:n.-137-1063A>C | |
| NM_001301146.1:c.7-1063A>C | NP_001288075.1:n.7-1063A>C | |
| NM_080745.4:c.7-1063A>C | NP_542783.2:n.7-1063A>C | |
| NM_182985.4:c.412A>C | NP_892030.3:p.Lys138Gln | |
| NM_182985.5:c.412A>C MANE Select | NP_892030.3:p.Lys138Gln | |
| NM_001301144.2:c.-137-1063A>C | NP_001288073.1:n.-137-1063A>C | |
| NM_001301145.2:c.-137-1063A>C | NP_001288074.1:n.-137-1063A>C | |
| NM_001301146.2:c.7-1063A>C | NP_001288075.1:n.7-1063A>C | |
| NM_080745.5:c.7-1063A>C | NP_542783.2:n.7-1063A>C |