Revel Score:
ENST00000311856 (MANE Select)
0.509
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02158895 (EAS)
Genomes Max Group AF
0.00649472 (EAS)
Exomes Max Group AF
0.02332919 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38275988C>T , CM000665.2:g.38275988C>T | GRCh38 |
| NC_000003.11:g.38317479C>T , CM000665.1:g.38317479C>T | GRCh37 |
| NC_000003.10:g.38292483C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311856.9:c.1129C>T MANE Select | ENSP00000310241.3:p.Arg377Cys | |
| ENST00000311856.8:c.1129C>T | ENSP00000310241.3:p.Arg377Cys | |
| ENST00000415844.1:c.929C>T | ENSP00000395106.1:n.929C>T | |
| NM_004256.3:c.1129C>T | NP_004247.2:p.Arg377Cys | |
| XM_011534248.1:c.430C>T | XP_011532550.1:p.Arg144Cys | |
| XM_017007519.1:c.418C>T | XP_016863008.1:p.Arg140Cys | |
| XR_001740370.1:n.1178C>T | ||
| NM_004256.4:c.1129C>T MANE Select | NP_004247.2:p.Arg377Cys |