Revel Score:
ENST00000503569
0.816
ENST00000226760 (MANE Select)
0.816
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007226 (AFR)
Genomes Max Group AF
0.00007887 (AFR)
Exomes Max Group AF
0.00006609 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301467C>T , CM000666.2:g.6301467C>T | GRCh38 |
| NC_000004.11:g.6303194C>T , CM000666.1:g.6303194C>T | GRCh37 |
| NC_000004.10:g.6354095C>T | NCBI36 |
| NG_011700.1:g.36618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1708C>T | ENSP00000507852.1:p.Arg570Cys | |
| ENST00000683395.1:c.1649C>T | ||
| ENST00000684087.1:c.1672C>T | ENSP00000506978.1:p.Arg558Cys | |
| ENST00000506362.2:c.1423C>T | ENSP00000424103.2:p.Arg475Cys | |
| ENST00000673642.1:c.1331C>T | ENSP00000501242.1:n.1331C>T | |
| ENST00000673991.1:c.1708C>T | ENSP00000501033.1:p.Arg570Cys | |
| ENST00000226760.5:c.1672C>T MANE Select | ENSP00000226760.1:p.Arg558Cys | |
| ENST00000503569.5:c.1672C>T | ENSP00000423337.1:p.Arg558Cys | |
| ENST00000507765.1:n.1857C>T | ||
| NM_001145853.1:c.1672C>T | NP_001139325.1:p.Arg558Cys | |
| NM_006005.3:c.1672C>T MANE Select | NP_005996.2:p.Arg558Cys | |
| XM_017008586.1:c.1681C>T | XP_016864075.1:p.Arg561Cys |