Revel Score:
ENST00000367021 (MANE Select)
0.739
ENST00000542854
0.739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209788614C>G , CM000663.2:g.209788614C>G | GRCh38 |
| NC_000001.10:g.209961959C>G , CM000663.1:g.209961959C>G | GRCh37 |
| NC_000001.9:g.208028582C>G | NCBI36 |
| NG_007081.2:g.22521G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1210G>C | ENSP00000512426.1:p.Glu404Gln | |
| ENST00000696134.1:c.*637G>C | ENSP00000512427.1:n.*637G>C | |
| ENST00000367021.8:c.1210G>C MANE Select | ENSP00000355988.3:p.Glu404Gln | |
| ENST00000643798.1:c.*720G>C | ENSP00000496669.1:n.*720G>C | |
| ENST00000367021.7:c.1210G>C | ENSP00000355988.3:p.Glu404Gln | |
| ENST00000542854.5:c.925G>C | ENSP00000440532.1:p.Glu309Gln | |
| NM_001206696.1:c.925G>C | NP_001193625.1:p.Glu309Gln | |
| NM_006147.3:c.1210G>C | NP_006138.1:p.Glu404Gln | |
| NM_006147.4:c.1210G>C MANE Select | NP_006138.1:p.Glu404Gln | |
| NM_001206696.2:c.925G>C | NP_001193625.1:p.Glu309Gln |