Revel Score:
ENST00000355773 (MANE Select)
0.669
ENST00000393019
0.669
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020785 (NFE)
Genomes Max Group AF
0.00019441 (NFE)
Exomes Max Group AF
0.00020348 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644583G>A , CM000668.2:g.73644583G>A | GRCh38 |
| NC_000006.11:g.74354306G>A , CM000668.1:g.74354306G>A | GRCh37 |
| NC_000006.10:g.74411027G>A | NCBI36 |
| NG_008272.1:g.14432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.115C>T MANE Select | ENSP00000348019.5:p.Arg39Cys | |
| ENST00000355773.5:c.115C>T | ENSP00000348019.5:p.Arg39Cys | |
| NM_012434.4:c.115C>T | NP_036566.1:p.Arg39Cys | |
| XM_005248710.2:c.64C>T | XP_005248767.1:p.Arg22Cys | |
| XM_005248711.1:c.-84C>T | XP_005248768.1:n.-84C>T | |
| XM_011535750.1:c.115C>T | XP_011534052.1:p.Arg39Cys | |
| XM_011535751.1:c.115C>T | XP_011534053.1:p.Arg39Cys | |
| NM_012434.5:c.115C>T MANE Select | NP_036566.1:p.Arg39Cys | |
| NM_001382629.1:c.61-2659C>T | NP_001369558.1:n.61-2659C>T | |
| NM_001382630.1:c.115C>T | NP_001369559.1:p.Arg39Cys | |
| NM_001382631.1:c.136C>T | NP_001369560.1:p.Arg46Cys | |
| NM_001382632.1:c.115C>T | NP_001369561.1:p.Arg39Cys | |
| NM_001382633.1:c.115C>T | NP_001369562.1:p.Arg39Cys | |
| NM_001382634.1:c.115C>T | NP_001369563.1:p.Arg39Cys | |
| NM_001382635.1:c.115C>T | NP_001369564.1:p.Arg39Cys | |
| NM_001382636.1:c.61-2659C>T | NP_001369565.1:n.61-2659C>T |