Revel Score:
ENST00000380252
0.880
ENST00000380259
0.880
ENST00000336906 (MANE Select)
0.880
ENST00000380247
0.880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254417G>A , CM000673.2:g.5254417G>A | GRCh38 |
| NC_000011.9:g.5275647G>A , CM000673.1:g.5275647G>A | GRCh37 |
| NC_000011.8:g.5232223G>A | NCBI36 |
| NG_000007.3:g.43199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.190C>T MANE Select | ENSP00000338082.4:p.His64Tyr | |
| ENST00000380252.6:c.25C>T | ENSP00000369602.2:p.His9Tyr | |
| ENST00000380259.7:c.1736C>T | ENSP00000369609.3:n.1736C>T | |
| ENST00000642908.1:c.190C>T | ENSP00000495346.1:p.His64Tyr | |
| ENST00000647543.1:c.190C>T | ENSP00000496470.1:p.His64Tyr | |
| ENST00000336906.4:c.190C>T | ENSP00000338082.4:p.His64Tyr | |
| ENST00000380252.5:c.160C>T | ENSP00000369602.1:p.His54Tyr | |
| ENST00000380259.6:c.190C>T | ENSP00000369609.2:p.His64Tyr | |
| ENST00000444587.1:c.*59C>T | ENSP00000488218.1:n.*59C>T | |
| ENST00000620888.4:c.190C>T | ENSP00000479637.1:p.His64Tyr | |
| ENST00000624109.1:c.165G>A | ENSP00000485458.1:p.Met55Ile | |
| NM_000184.2:c.190C>T | NP_000175.1:p.His64Tyr | |
| NM_000184.3:c.190C>T MANE Select | NP_000175.1:p.His64Tyr |