Revel Score:
ENST00000556036
0.341
ENST00000267430 (MANE Select)
0.341
ENST00000542564
0.341
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00117362 (AMR)
Genomes Max Group AF
0.00040341 (AMR)
Exomes Max Group AF
0.00135144 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45164518C>T , CM000676.2:g.45164518C>T | GRCh38 |
| NC_000014.8:g.45633721C>T , CM000676.1:g.45633721C>T | GRCh37 |
| NC_000014.7:g.44703471C>T | NCBI36 |
| NG_007417.1:g.33586C>T , LRG_502:g.33586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556036.6:c.1741C>T | ENSP00000450596.1:p.Arg581Cys | |
| ENST00000556250.6:c.1582-2432C>T | ENSP00000452033.2:n.1582-2432C>T | |
| ENST00000696641.1:c.1582C>T | ENSP00000512774.1:p.Arg528Cys | |
| ENST00000696642.1:c.*552C>T | ENSP00000512775.1:n.*552C>T | |
| ENST00000696646.1:c.*552C>T | ENSP00000512777.1:n.*552C>T | |
| ENST00000696647.1:c.1741C>T | ENSP00000512778.1:p.Arg581Cys | |
| ENST00000696648.1:c.1741C>T | ENSP00000512779.1:p.Arg581Cys | |
| ENST00000696649.1:c.1741C>T | ENSP00000512780.1:p.Arg581Cys | |
| ENST00000696650.1:n.1689C>T | ||
| ENST00000696658.1:n.2291C>T | ||
| ENST00000696662.1:c.1663C>T | ENSP00000512788.1:p.Arg555Cys | |
| ENST00000696663.1:c.558C>T | ||
| ENST00000696664.1:c.558C>T | ||
| ENST00000696675.1:c.1741C>T | ENSP00000512799.1:p.Arg581Cys | |
| ENST00000696682.1:c.1741C>T | ENSP00000512805.1:p.Arg581Cys | |
| ENST00000696683.1:c.558C>T | ||
| ENST00000696684.1:c.558C>T | ||
| ENST00000696685.1:c.558C>T | ||
| ENST00000267430.10:c.1741C>T MANE Select | ENSP00000267430.5:p.Arg581Cys | |
| ENST00000267430.9:c.1741C>T | ENSP00000267430.5:p.Arg581Cys | |
| ENST00000542564.6:c.1663C>T | ENSP00000442493.2:p.Arg555Cys | |
| ENST00000556036.5:c.1741C>T | ENSP00000450596.1:p.Arg581Cys | |
| ENST00000556250.5:c.337-2432C>T | ENSP00000452033.1:n.337-2432C>T | |
| NM_001308133.1:c.1663C>T | NP_001295062.1:p.Arg555Cys | |
| NM_001308134.1:c.1741C>T | NP_001295063.1:p.Arg581Cys | |
| NM_020937.2:c.1741C>T , LRG_502t1:c.1741C>T | NP_065988.1:p.Arg581Cys | |
| NM_020937.3:c.1741C>T | NP_065988.1:p.Arg581Cys | |
| XM_011537034.1:c.1741C>T | XP_011535336.1:p.Arg581Cys | |
| XM_011537035.1:c.1663C>T | XP_011535337.1:p.Arg555Cys | |
| XM_011537036.1:c.1741C>T | XP_011535338.1:p.Arg581Cys | |
| XM_011537034.2:c.1741C>T | XP_011535336.1:p.Arg581Cys | |
| XM_011537035.3:c.1663C>T | XP_011535337.1:p.Arg555Cys | |
| XM_017021523.1:c.1741C>T | XP_016877012.1:p.Arg581Cys | |
| XM_017021524.2:c.778C>T | XP_016877013.1:p.Arg260Cys | |
| XM_017021525.2:c.556C>T | XP_016877014.1:p.Arg186Cys | |
| XM_017021526.2:c.556C>T | XP_016877015.1:p.Arg186Cys | |
| XM_017021527.1:c.556C>T | XP_016877016.1:p.Arg186Cys | |
| XR_001750470.1:n.1833C>T | ||
| XR_001750471.2:n.1833C>T | ||
| XR_001750472.1:n.1833C>T | ||
| NM_020937.4:c.1741C>T MANE Select | NP_065988.1:p.Arg581Cys | |
| NM_001308133.2:c.1663C>T | NP_001295062.1:p.Arg555Cys | |
| NM_001308134.2:c.1741C>T | NP_001295063.1:p.Arg581Cys |