Revel Score:
ENST00000268124 (MANE Select)
0.959
ENST00000442287
0.959
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002153 (NFE)
Exomes Max Group AF
0.00002201 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89327300A>G , CM000677.2:g.89327300A>G | GRCh38 |
| NC_000015.9:g.89870531A>G , CM000677.1:g.89870531A>G | GRCh37 |
| NC_000015.8:g.87671535A>G | NCBI36 |
| NG_008218.1:g.12496T>C | |
| NG_008218.2:g.12496T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1300T>C | ENSP00000516154.1:p.Tyr434His | |
| ENST00000268124.11:c.1300T>C MANE Select | ENSP00000268124.5:p.Tyr434His | |
| ENST00000530292.3:c.901T>C | ENSP00000432885.2:p.Tyr301His | |
| ENST00000635986.2:c.1300T>C | ENSP00000490653.2:p.Tyr434His | |
| ENST00000636774.1:c.1300T>C | ENSP00000489799.1:p.Tyr434His | |
| ENST00000637238.1:c.37T>C | ENSP00000490756.1:p.Tyr13His | |
| ENST00000637264.1:c.372T>C | ||
| ENST00000666746.1:c.877T>C | ||
| ENST00000672071.1:n.1498T>C | ||
| ENST00000672923.2:n.1403T>C | ||
| ENST00000268124.9:c.1300T>C | ENSP00000268124.5:p.Tyr434His | |
| ENST00000442287.6:c.1300T>C | ENSP00000399851.2:p.Tyr434His | |
| ENST00000532363.2:n.158T>C | ||
| ENST00000631044.2:c.*683T>C | ENSP00000486730.1:n.*683T>C | |
| NM_001126131.1:c.1300T>C | NP_001119603.1:p.Tyr434His | |
| NM_002693.2:c.1300T>C | NP_002684.1:p.Tyr434His | |
| NM_001126131.2:c.1300T>C | NP_001119603.1:p.Tyr434His | |
| NM_002693.3:c.1300T>C MANE Select | NP_002684.1:p.Tyr434His |