Revel Score:
ENST00000266087 (MANE Select)
0.580
ENST00000382058
0.580
ENST00000397426
0.580
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00098575 (EAS)
Genomes Max Group AF
0.00026256 (EAS)
Exomes Max Group AF
0.00102531 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32493269C>T , CM000684.2:g.32493269C>T | GRCh38 |
| NC_000022.10:g.32889256C>T , CM000684.1:g.32889256C>T | GRCh37 |
| NC_000022.9:g.31219256C>T | NCBI36 |
| NG_016001.1:g.23550C>T | |
| NG_016001.2:g.23550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.1132C>T MANE Select | ENSP00000266087.7:p.Arg378Cys | |
| ENST00000266087.11:c.1132C>T | ENSP00000266087.7:p.Arg378Cys | |
| ENST00000397426.5:c.790C>T | ENSP00000380571.1:p.Arg264Cys | |
| ENST00000420700.5:c.*711C>T | ENSP00000406155.1:n.*711C>T | |
| ENST00000425028.5:c.*830C>T | ENSP00000395823.1:n.*830C>T | |
| ENST00000452138.3:c.895C>T | ENSP00000388547.2:p.Arg299Cys | |
| ENST00000492535.1:n.6148C>T | ||
| NM_001033024.1:c.895C>T | NP_001028196.1:p.Arg299Cys | |
| NM_001257990.1:c.790C>T | NP_001244919.1:p.Arg264Cys | |
| NM_012179.3:c.1132C>T | NP_036311.3:p.Arg378Cys | |
| XM_011530106.1:c.664C>T | XP_011528408.1:p.Arg222Cys | |
| XM_024452207.1:c.790C>T | XP_024307975.1:p.Arg264Cys | |
| NM_012179.4:c.1132C>T MANE Select | NP_036311.3:p.Arg378Cys | |
| NM_001033024.2:c.895C>T | NP_001028196.1:p.Arg299Cys | |
| NM_001257990.2:c.790C>T | NP_001244919.1:p.Arg264Cys |