Revel Score:
ENST00000300452 (MANE Select)
0.443
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007437 (EAS)
Genomes Max Group AF
0.00015677 (EAS)
Exomes Max Group AF
0.00003522 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128332183C>T , CM000671.2:g.128332183C>T | GRCh38 |
| NC_000009.11:g.131094462C>T , CM000671.1:g.131094462C>T | GRCh37 |
| NC_000009.10:g.130134283C>T | NCBI36 |
| NG_042101.1:g.14676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300452.8:c.433C>T MANE Select | ENSP00000300452.3:p.Arg145Cys | |
| ENST00000300452.7:c.433C>T | ENSP00000300452.3:p.Arg145Cys | |
| ENST00000461102.1:n.1772C>T | ||
| NM_001305942.1:c.*3-1291C>T | NP_001292871.1:n.*3-1291C>T | |
| NM_016035.3:c.433C>T | NP_057119.2:p.Arg145Cys | |
| NM_016035.4:c.433C>T | NP_057119.2:p.Arg145Cys | |
| XR_929805.1:n.749-667C>T | ||
| XM_017014792.1:c.*3-667C>T | XP_016870281.1:n.*3-667C>T | |
| XR_001746316.2:n.686C>T | ||
| XR_929805.3:n.749-667C>T | ||
| NM_016035.5:c.433C>T MANE Select | NP_057119.3:p.Arg145Cys | |
| NM_001305942.2:c.*3-1291C>T | NP_001292871.2:n.*3-1291C>T |