Revel Score:
ENST00000380252
0.629
ENST00000380259
0.629
ENST00000336906 (MANE Select)
0.629
ENST00000380247
0.629
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253357C>T , CM000673.2:g.5253357C>T | GRCh38 |
| NC_000011.9:g.5274587C>T , CM000673.1:g.5274587C>T | GRCh37 |
| NC_000011.8:g.5231163C>T | NCBI36 |
| NG_000007.3:g.44259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.364G>A MANE Select | ENSP00000338082.4:p.Glu122Lys | |
| ENST00000380252.6:c.199G>A | ENSP00000369602.2:p.Glu67Lys | |
| ENST00000642908.1:c.315+935G>A | ENSP00000495346.1:n.315+935G>A | |
| ENST00000647543.1:c.364G>A | ENSP00000496470.1:p.Glu122Lys | |
| ENST00000336906.4:c.364G>A | ENSP00000338082.4:p.Glu122Lys | |
| ENST00000380252.5:c.334G>A | ENSP00000369602.1:p.Glu112Lys | |
| ENST00000380259.6:c.364G>A | ENSP00000369609.2:p.Glu122Lys | |
| ENST00000620888.4:c.315+935G>A | ENSP00000479637.1:n.315+935G>A | |
| NM_000184.2:c.364G>A | NP_000175.1:p.Glu122Lys | |
| NM_000184.3:c.364G>A MANE Select | NP_000175.1:p.Glu122Lys |