Revel Score:
ENST00000311895 (MANE Select)
0.183
ENST00000389138
0.183
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Genomes Max Group AF
0.00007307 (SAS)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947856C>T , CM000678.2:g.13947856C>T | GRCh38 |
| NC_000016.9:g.14041713C>T , CM000678.1:g.14041713C>T | GRCh37 |
| NC_000016.8:g.13949214C>T | NCBI36 |
| NG_011442.1:g.32700C>T , LRG_463:g.32700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2398C>T | ENSP00000507912.1:p.Arg800Cys | |
| ENST00000683962.1:c.*1954C>T | ENSP00000506854.1:n.*1954C>T | |
| ENST00000311895.8:c.2260C>T MANE Select | ENSP00000310520.7:p.Arg754Cys | |
| ENST00000311895.7:c.2260C>T | ENSP00000310520.7:p.Arg754Cys | |
| ENST00000389138.7:n.1537C>T | ||
| ENST00000462862.1:c.573C>T | ENSP00000461322.1:n.573C>T | |
| NM_005236.2:c.2260C>T , LRG_463t1:c.2260C>T | NP_005227.1:p.Arg754Cys | |
| XM_011522424.1:c.2398C>T | XP_011520726.1:p.Arg800Cys | |
| XM_011522425.1:c.1717C>T | XP_011520727.1:p.Arg573Cys | |
| XM_011522426.1:c.1471C>T | XP_011520728.1:p.Arg491Cys | |
| XM_011522427.1:c.910C>T | XP_011520729.1:p.Arg304Cys | |
| XR_932805.1:n.2419C>T | ||
| XM_011522424.3:c.2398C>T | XP_011520726.1:p.Arg800Cys | |
| XM_017023043.2:c.1471C>T | XP_016878532.1:p.Arg491Cys | |
| NM_005236.3:c.2260C>T MANE Select | NP_005227.1:p.Arg754Cys |