Revel Score:
ENST00000449038
0.341
ENST00000414311
0.341
ENST00000358133
0.341
ENST00000376369
0.341
ENST00000429000
0.341
ENST00000196061 (MANE Select)
0.341
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013403 (MID)
Genomes Max Group AF
0.00006835 (EAS)
Exomes Max Group AF
0.00014138 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11948035C>T , CM000663.2:g.11948035C>T | GRCh38 |
| NC_000001.10:g.12008092C>T , CM000663.1:g.12008092C>T | GRCh37 |
| NC_000001.9:g.11930679C>T | NCBI36 |
| NG_008159.1:g.18347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.136C>T MANE Select | ENSP00000196061.4:p.Arg46Cys | |
| ENST00000196061.4:c.136C>T | ENSP00000196061.4:p.Arg46Cys | |
| ENST00000358133.5:n.182C>T | ||
| ENST00000429000.6:c.136C>T | ENSP00000405372.1:p.Arg46Cys | |
| ENST00000449038.5:c.277C>T | ENSP00000414443.1:p.Arg93Cys | |
| ENST00000485046.5:n.179C>T | ||
| NM_000302.3:c.136C>T | NP_000293.2:p.Arg46Cys | |
| NM_001316320.1:c.277C>T | NP_001303249.1:p.Arg93Cys | |
| XM_011541594.1:c.217C>T | XP_011539896.1:p.Arg73Cys | |
| XM_024447707.1:c.-531C>T | XP_024303475.1:n.-531C>T | |
| NM_000302.4:c.136C>T MANE Select | NP_000293.2:p.Arg46Cys | |
| NM_001316320.2:c.277C>T | NP_001303249.1:p.Arg93Cys |