Revel Score:
ENST00000357039 (MANE Select)
0.550
ENST00000419564
0.550
ENST00000520103
0.550
ENST00000522527
0.550
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01161061 (NFE)
Genomes Max Group AF
0.00951849 (NFE)
Exomes Max Group AF
0.01170408 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983431A>G , CM000670.2:g.76983431A>G | GRCh38 |
| NC_000008.10:g.77895667A>G , CM000670.1:g.77895667A>G | GRCh37 |
| NC_000008.9:g.78058222A>G | NCBI36 |
| NG_008371.1:g.21858T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.748T>C MANE Select | ENSP00000349543.4:p.Trp250Arg | |
| ENST00000357039.8:c.748T>C | ENSP00000349543.4:p.Trp250Arg | |
| ENST00000520103.5:c.748T>C | ENSP00000428590.1:p.Trp250Arg | |
| ENST00000522527.5:c.748T>C | ENSP00000428638.1:p.Trp250Arg | |
| NM_000318.2:c.748T>C | NP_000309.1:p.Trp250Arg | |
| NM_001079867.1:c.748T>C | NP_001073336.1:p.Trp250Arg | |
| NM_001172086.1:c.748T>C | NP_001165557.1:p.Trp250Arg | |
| NM_001172087.1:c.748T>C | NP_001165558.1:p.Trp250Arg | |
| NM_000318.3:c.748T>C MANE Select | NP_000309.2:p.Trp250Arg | |
| NM_001079867.2:c.748T>C | NP_001073336.2:p.Trp250Arg | |
| NM_001172086.2:c.748T>C | NP_001165557.2:p.Trp250Arg | |
| NM_001172087.2:c.748T>C | NP_001165558.2:p.Trp250Arg |