Revel Score:
ENST00000380299
0.737
ENST00000417377
0.154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5232968T>C , CM000673.2:g.5232968T>C | GRCh38 |
| NC_000011.9:g.5254198T>C , CM000673.1:g.5254198T>C | GRCh37 |
| NC_000011.8:g.5210774T>C | NCBI36 |
| NG_000007.3:g.64648A>G | |
| NG_063112.2:g.15690A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.440A>G | ENSP00000494708.1:p.His147Arg | |
| ENST00000650601.1:c.440A>G MANE Select | ENSP00000497529.1:p.His147Arg | |
| ENST00000292901.7:c.316-170A>G | ENSP00000292901.3:n.316-170A>G | |
| ENST00000380299.3:c.440A>G | ENSP00000369654.3:p.His147Arg | |
| ENST00000417377.1:c.217A>G | ENSP00000414741.1:p.Ile73Val | |
| NM_000519.3:c.440A>G | NP_000510.1:p.His147Arg | |
| NM_000519.4:c.440A>G MANE Select | NP_000510.1:p.His147Arg |