Revel Score:
ENST00000280362 (MANE Select)
0.944
ENST00000525803
0.944
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002853 (NFE)
Exomes Max Group AF
0.00002943 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112226489C>T , CM000673.2:g.112226489C>T | GRCh38 |
| NC_000011.9:g.112097212C>T , CM000673.1:g.112097212C>T | GRCh37 |
| NC_000011.8:g.111602422C>T | NCBI36 |
| NG_008743.1:g.5125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.46C>T MANE Select | ENSP00000280362.3:p.Arg16Cys | |
| ENST00000280362.7:c.46C>T | ENSP00000280362.3:p.Arg16Cys | |
| ENST00000525645.1:n.121C>T | ||
| ENST00000525803.1:c.46C>T | ENSP00000431750.1:p.Arg16Cys | |
| ENST00000528679.5:c.46C>T | ENSP00000435895.1:p.Arg16Cys | |
| ENST00000531673.5:c.46C>T | ENSP00000433469.1:p.Arg16Cys | |
| NM_000317.2:c.46C>T | NP_000308.1:p.Arg16Cys | |
| NM_000317.3:c.46C>T MANE Select | NP_000308.1:p.Arg16Cys |