Revel Score:
ENST00000503569
0.828
ENST00000226760 (MANE Select)
0.828
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014381 (AFR)
Genomes Max Group AF
0.00014883 (AFR)
Exomes Max Group AF
0.00007712 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300918C>T , CM000666.2:g.6300918C>T | GRCh38 |
| NC_000004.11:g.6302645C>T , CM000666.1:g.6302645C>T | GRCh37 |
| NC_000004.10:g.6353546C>T | NCBI36 |
| NG_011700.1:g.36069C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1159C>T | ENSP00000507852.1:p.Arg387Cys | |
| ENST00000683395.1:c.1100C>T | ||
| ENST00000684087.1:c.1123C>T | ENSP00000506978.1:p.Arg375Cys | |
| ENST00000506362.2:c.874C>T | ENSP00000424103.2:p.Arg292Cys | |
| ENST00000673642.1:c.782C>T | ENSP00000501242.1:p.Pro261Leu | |
| ENST00000673991.1:c.1159C>T | ENSP00000501033.1:p.Arg387Cys | |
| ENST00000226760.5:c.1123C>T MANE Select | ENSP00000226760.1:p.Arg375Cys | |
| ENST00000503569.5:c.1123C>T | ENSP00000423337.1:p.Arg375Cys | |
| ENST00000507765.1:n.1308C>T | ||
| NM_001145853.1:c.1123C>T | NP_001139325.1:p.Arg375Cys | |
| NM_006005.3:c.1123C>T MANE Select | NP_005996.2:p.Arg375Cys | |
| XM_017008586.1:c.1132C>T | XP_016864075.1:p.Arg378Cys |