Revel Score:
ENST00000292901
0.552
ENST00000380299
0.552
ENST00000429817
0.552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234176C>T , CM000673.2:g.5234176C>T | GRCh38 |
| NC_000011.9:g.5255406C>T , CM000673.1:g.5255406C>T | GRCh37 |
| NC_000011.8:g.5211982C>T | NCBI36 |
| NG_000007.3:g.63440G>A | |
| NG_063112.2:g.14482G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.130G>A | ENSP00000494708.1:p.Glu44Lys | |
| ENST00000650601.1:c.130G>A MANE Select | ENSP00000497529.1:p.Glu44Lys | |
| ENST00000292901.7:c.130G>A | ENSP00000292901.3:p.Glu44Lys | |
| ENST00000380299.3:c.130G>A | ENSP00000369654.3:p.Glu44Lys | |
| ENST00000417377.1:c.92+166G>A | ENSP00000414741.1:n.92+166G>A | |
| ENST00000429817.1:c.130G>A | ENSP00000393810.1:p.Glu44Lys | |
| NM_000519.3:c.130G>A | NP_000510.1:p.Glu44Lys | |
| NM_000519.4:c.130G>A MANE Select | NP_000510.1:p.Glu44Lys |