Revel Score:
ENST00000367021 (MANE Select)
0.898
ENST00000542854
0.898
ENST00000456314
0.898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209790806C>T , CM000663.2:g.209790806C>T | GRCh38 |
| NC_000001.10:g.209964151C>T , CM000663.1:g.209964151C>T | GRCh37 |
| NC_000001.9:g.208030774C>T | NCBI36 |
| NG_007081.2:g.20329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.749G>A | ENSP00000512426.1:p.Arg250Gln | |
| ENST00000696134.1:c.*176G>A | ENSP00000512427.1:n.*176G>A | |
| ENST00000367021.8:c.749G>A MANE Select | ENSP00000355988.3:p.Arg250Gln | |
| ENST00000643798.1:c.*259G>A | ENSP00000496669.1:n.*259G>A | |
| ENST00000367021.7:c.749G>A | ENSP00000355988.3:p.Arg250Gln | |
| ENST00000456314.1:c.749G>A | ENSP00000403855.1:p.Arg250Gln | |
| ENST00000464698.1:n.528G>A | ||
| ENST00000542854.5:c.464G>A | ENSP00000440532.1:p.Arg155Gln | |
| NM_001206696.1:c.464G>A | NP_001193625.1:p.Arg155Gln | |
| NM_006147.3:c.749G>A | NP_006138.1:p.Arg250Gln | |
| NM_006147.4:c.749G>A MANE Select | NP_006138.1:p.Arg250Gln | |
| NM_001206696.2:c.464G>A | NP_001193625.1:p.Arg155Gln |