Revel Score:
ENST00000294304 (MANE Select)
0.784
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033149 (EAS)
Genomes Max Group AF
0.00050458 (EAS)
Exomes Max Group AF
0.00025244 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68411509A>G , CM000673.2:g.68411509A>G | GRCh38 |
| NC_000011.9:g.68178977A>G , CM000673.1:g.68178977A>G | GRCh37 |
| NC_000011.8:g.67935553A>G | NCBI36 |
| NG_015835.1:g.103870A>G | |
| NG_015835.2:g.103870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.2392A>G MANE Select | ENSP00000294304.6:p.Thr798Ala | |
| ENST00000294304.11:c.2392A>G | ENSP00000294304.6:p.Thr798Ala | |
| ENST00000528714.1:n.186A>G | ||
| ENST00000529993.5:c.*998A>G | ENSP00000436652.1:n.*998A>G | |
| NM_001291902.1:c.649A>G | NP_001278831.1:p.Thr217Ala | |
| NM_002335.3:c.2392A>G | NP_002326.2:p.Thr798Ala | |
| XM_005273994.2:c.2392A>G | XP_005274051.1:p.Thr798Ala | |
| XM_011545029.1:c.2419A>G | XP_011543331.1:p.Thr807Ala | |
| XM_011545030.1:c.2419A>G | XP_011543332.1:p.Thr807Ala | |
| XM_011545031.1:c.2419A>G | XP_011543333.1:p.Thr807Ala | |
| XR_949925.1:n.2434A>G | ||
| XR_949926.1:n.2434A>G | ||
| XM_017017735.1:c.649A>G | XP_016873224.1:p.Thr217Ala | |
| XR_001747874.1:n.2434A>G | ||
| XR_949925.2:n.2434A>G | ||
| XR_949926.2:n.2434A>G | ||
| NM_002335.4:c.2392A>G MANE Select | NP_002326.2:p.Thr798Ala | |
| NM_001291902.2:c.649A>G | NP_001278831.1:p.Thr217Ala |