COSMIC:
COSM4986250 (not active)
COSM4986251 (not active)
Revel Score:
ENST00000263088 (MANE Select)
0.132
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38234063 (EAS)
Genomes Max Group AF
0.39163851 (EAS)
Exomes Max Group AF
0.37959325 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4809322C>T , CM000679.2:g.4809322C>T | GRCh38 |
| NC_000017.10:g.4712617C>T , CM000679.1:g.4712617C>T | GRCh37 |
| NC_000017.9:g.4659581C>T | NCBI36 |
| NG_029608.1:g.7222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263088.11:c.514C>T MANE Select | ENSP00000263088.5:p.Arg172Cys | |
| ENST00000263088.10:c.514C>T | ENSP00000263088.5:p.Arg172Cys | |
| ENST00000572940.5:c.514C>T | ENSP00000459571.1:p.Arg172Cys | |
| ENST00000575246.6:c.*162C>T | ENSP00000459304.1:n.*162C>T | |
| ENST00000575316.1:c.514C>T | ENSP00000458795.1:p.Arg172Cys | |
| NM_001243108.1:c.514C>T | NP_001230037.1:p.Arg172Cys | |
| NM_002663.4:c.514C>T | NP_002654.3:p.Arg172Cys | |
| XM_005256695.2:c.514C>T | XP_005256752.1:p.Arg172Cys | |
| XM_011523941.1:c.514C>T | XP_011522243.1:p.Arg172Cys | |
| XM_011523942.1:c.514C>T | XP_011522244.1:p.Arg172Cys | |
| XM_017024764.2:c.-693C>T | XP_016880253.1:n.-693C>T | |
| XR_001752533.2:n.576C>T | ||
| XR_001752534.2:n.576C>T | ||
| XR_001752535.2:n.576C>T | ||
| XR_001752536.2:n.576C>T | ||
| XR_001752537.2:n.576C>T | ||
| XR_002958023.1:n.576C>T | ||
| XR_002958024.1:n.576C>T | ||
| NM_002663.5:c.514C>T MANE Select | NP_002654.3:p.Arg172Cys | |
| NM_001243108.2:c.514C>T | NP_001230037.1:p.Arg172Cys |