Revel Score:
ENST00000447485
0.796
ENST00000535539
0.205
ENST00000378438
0.205
ENST00000436783
0.205
ENST00000544975
0.205
ENST00000538655
0.205
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00066977 (SAS)
Genomes Max Group AF
0.00050785 (SAS)
Exomes Max Group AF
0.00063843 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40597528G>A , CM000685.2:g.40597528G>A | GRCh38 |
| NC_000023.10:g.40456780G>A , CM000685.1:g.40456780G>A | GRCh37 |
| NC_000023.9:g.40341724G>A | NCBI36 |
| NG_008874.1:g.21565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378438.9:c.398G>A | ENSP00000367697.5:p.Arg133Lys | |
| ENST00000423649.2:c.301-1153G>A | ENSP00000410105.2:n.301-1153G>A | |
| ENST00000436783.6:c.251G>A | ENSP00000403969.2:p.Arg84Lys | |
| ENST00000447485.6:c.398G>A | ENSP00000411317.2:p.Arg133Lys | |
| ENST00000479120.2:n.429G>A | ||
| ENST00000486558.6:c.74G>A | ENSP00000490706.1:p.Arg25Lys | |
| ENST00000635734.1:c.166G>A | ENSP00000489653.1:p.Glu56Lys | |
| ENST00000635774.1:c.398G>A | ENSP00000490733.1:p.Arg133Lys | |
| ENST00000635829.1:n.108-1153G>A | ||
| ENST00000636196.1:c.398G>A | ENSP00000490675.1:p.Arg133Lys | |
| ENST00000636251.1:c.170G>A | ENSP00000489920.1:p.Arg57Lys | |
| ENST00000636287.1:c.302G>A | ENSP00000490452.1:p.Arg101Lys | |
| ENST00000636409.1:c.302G>A | ENSP00000489819.1:p.Arg101Lys | |
| ENST00000636574.1:c.397-1G>A | ENSP00000490345.1:n.397-1G>A | |
| ENST00000636580.2:c.398G>A MANE Select | ENSP00000490083.1:p.Arg133Lys | |
| ENST00000636639.1:c.398G>A | ENSP00000490382.1:p.Arg133Lys | |
| ENST00000636787.1:c.398G>A | ENSP00000490954.1:p.Arg133Lys | |
| ENST00000636970.1:c.74G>A | ENSP00000490462.1:p.Arg25Lys | |
| ENST00000637140.1:n.10G>A | ||
| ENST00000637327.1:c.170G>A | ENSP00000490558.1:p.Arg57Lys | |
| ENST00000637482.1:c.73-1153G>A | ENSP00000490532.1:n.73-1153G>A | |
| ENST00000637526.1:c.251G>A | ENSP00000489845.1:p.Arg84Lys | |
| ENST00000637614.1:c.97-2064G>A | ENSP00000490884.1:n.97-2064G>A | |
| ENST00000637930.1:n.95-224G>A | ||
| ENST00000637955.1:c.349G>A | ||
| ENST00000638153.1:c.398G>A | ENSP00000490239.1:p.Arg133Lys | |
| ENST00000378438.8:c.398G>A | ENSP00000367697.4:p.Arg133Lys | |
| ENST00000423649.1:c.356-1153G>A | ||
| ENST00000436783.5:c.398G>A | ENSP00000403969.1:p.Arg133Lys | |
| ENST00000447485.5:c.322G>A | ||
| ENST00000479120.1:n.429G>A | ||
| ENST00000486558.5:n.255G>A | ||
| NM_005765.2:c.398G>A | NP_005756.2:p.Arg133Lys | |
| NM_005765.3:c.398G>A MANE Select | NP_005756.2:p.Arg133Lys |