Revel Score:
ENST00000380299
0.550
ENST00000417377
0.275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233043T>A , CM000673.2:g.5233043T>A | GRCh38 |
| NC_000011.9:g.5254273T>A , CM000673.1:g.5254273T>A | GRCh37 |
| NC_000011.8:g.5210849T>A | NCBI36 |
| NG_000007.3:g.64573A>T | |
| NG_063112.2:g.15615A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.365A>T | ENSP00000494708.1:p.Glu122Val | |
| ENST00000650601.1:c.365A>T MANE Select | ENSP00000497529.1:p.Glu122Val | |
| ENST00000292901.7:c.316-245A>T | ENSP00000292901.3:n.316-245A>T | |
| ENST00000380299.3:c.365A>T | ENSP00000369654.3:p.Glu122Val | |
| ENST00000417377.1:c.142A>T | ENSP00000414741.1:p.Asn48Tyr | |
| NM_000519.3:c.365A>T | NP_000510.1:p.Glu122Val | |
| NM_000519.4:c.365A>T MANE Select | NP_000510.1:p.Glu122Val |