Revel Score:
ENST00000320005 (MANE Select)
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99186804 (EAS)
Genomes Max Group AF
0.97604295 (EAS)
Exomes Max Group AF
0.99148265 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86667075A>C , CM000670.2:g.86667075A>C | GRCh38 |
| NC_000008.10:g.87679303A>C , CM000670.1:g.87679303A>C | GRCh37 |
| NC_000008.9:g.87748419A>C | NCBI36 |
| NG_016980.1:g.81601T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.702T>G MANE Select | ENSP00000316605.5:p.Cys234Trp | |
| ENST00000681746.1:c.702T>G | ENSP00000505959.1:p.Cys234Trp | |
| ENST00000320005.5:c.702T>G | ENSP00000316605.5:p.Cys234Trp | |
| NM_019098.4:c.702T>G | NP_061971.3:p.Cys234Trp | |
| XM_011517138.1:c.288T>G | XP_011515440.1:p.Cys96Trp | |
| XM_011517138.2:c.288T>G | XP_011515440.1:p.Cys96Trp | |
| NM_019098.5:c.702T>G MANE Select | NP_061971.3:p.Cys234Trp |