Revel Score:
ENST00000380252
0.571
ENST00000380259
0.571
ENST00000336906 (MANE Select)
0.571
ENST00000380247
0.241
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253282G>A , CM000673.2:g.5253282G>A | GRCh38 |
| NC_000011.9:g.5274512G>A , CM000673.1:g.5274512G>A | GRCh37 |
| NC_000011.8:g.5231088G>A | NCBI36 |
| NG_000007.3:g.44334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.439C>T MANE Select | ENSP00000338082.4:p.His147Tyr | |
| ENST00000380252.6:c.274C>T | ENSP00000369602.2:p.His92Tyr | |
| ENST00000642908.1:c.315+1010C>T | ENSP00000495346.1:n.315+1010C>T | |
| ENST00000647543.1:c.378+61C>T | ENSP00000496470.1:n.378+61C>T | |
| ENST00000336906.4:c.439C>T | ENSP00000338082.4:p.His147Tyr | |
| ENST00000380252.5:c.409C>T | ENSP00000369602.1:p.His137Tyr | |
| ENST00000380259.6:c.439C>T | ENSP00000369609.2:p.His147Tyr | |
| ENST00000620888.4:c.315+1010C>T | ENSP00000479637.1:n.315+1010C>T | |
| NM_000184.2:c.439C>T | NP_000175.1:p.His147Tyr | |
| NM_000184.3:c.439C>T MANE Select | NP_000175.1:p.His147Tyr |