Revel Score:
ENST00000368061 (MANE Select)
0.792
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160421171C>T , CM000663.2:g.160421171C>T | GRCh38 |
| NC_000001.10:g.160390961C>T , CM000663.1:g.160390961C>T | GRCh37 |
| NC_000001.9:g.158657585C>T | NCBI36 |
| NG_023420.1:g.25598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696602.1:c.1201C>T | ENSP00000512747.1:p.Arg401Cys | |
| ENST00000368061.3:c.1057C>T MANE Select | ENSP00000357040.2:p.Arg353Cys | |
| ENST00000368061.2:c.1057C>T | ENSP00000357040.2:p.Arg353Cys | |
| ENST00000483408.1:n.237C>T | ||
| NM_020335.2:c.1057C>T | NP_065068.1:p.Arg353Cys | |
| XM_005245357.1:c.1057C>T | XP_005245414.1:p.Arg353Cys | |
| XM_011509804.1:c.1057C>T | XP_011508106.1:p.Arg353Cys | |
| NM_020335.3:c.1057C>T MANE Select | NP_065068.1:p.Arg353Cys |