Revel Score:
ENST00000282541 (MANE Select)
0.581
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000604 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00005972 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32159074C>T , CM000665.2:g.32159074C>T | GRCh38 |
| NC_000003.11:g.32200566C>T , CM000665.1:g.32200566C>T | GRCh37 |
| NC_000003.10:g.32175570C>T | NCBI36 |
| NG_023375.1:g.57564C>T , LRG_419:g.57564C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.817C>T MANE Select | ENSP00000282541.6:p.Arg273Cys | |
| ENST00000282541.9:c.817C>T | ENSP00000282541.5:p.Arg273Cys | |
| ENST00000428684.1:c.*444C>T | ENSP00000392199.1:n.*444C>T | |
| ENST00000474846.5:n.741C>T | ||
| ENST00000496151.1:n.318C>T | ||
| NM_015141.3:c.817C>T , LRG_419t1:c.817C>T | NP_055956.1:p.Arg273Cys | |
| XM_005264983.2:c.619-494C>T | XP_005265040.1:n.619-494C>T | |
| XM_006713068.2:c.676C>T | XP_006713131.1:p.Arg226Cys | |
| NM_015141.4:c.817C>T MANE Select | NP_055956.1:p.Arg273Cys |