gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06194534 (SAS)
Genomes Max Group AF
0.05340275 (SAS)
Exomes Max Group AF
0.06318461 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77215126C>T , CM000679.2:g.77215126C>T | GRCh38 |
| NC_000017.10:g.75211208C>T , CM000679.1:g.75211208C>T | GRCh37 |
| NC_000017.9:g.72722803C>T | NCBI36 |
| NG_050640.1:g.131484C>T | |
| NG_050640.2:g.131484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436233.9:c.*1103C>T MANE Select | ENSP00000390392.3:n.*1103C>T | |
| ENST00000392476.6:c.2144+1107C>T | ENSP00000376268.2:n.2144+1107C>T | |
| ENST00000430767.8:c.*1103C>T | ENSP00000408169.3:n.*1103C>T | |
| ENST00000436233.8:c.*1103C>T | ENSP00000390392.3:n.*1103C>T | |
| ENST00000443798.8:c.2144+1107C>T | ENSP00000406030.3:n.2144+1107C>T | |
| NM_001039573.2:c.2144+1107C>T | NP_001034662.2:n.2144+1107C>T | |
| NM_001143998.1:c.*1103C>T | NP_001137470.1:n.*1103C>T | |
| NM_001143999.1:c.*1103C>T | NP_001137471.1:n.*1103C>T | |
| NM_001144001.1:c.*1103C>T | NP_001137473.1:n.*1103C>T | |
| NM_001204408.1:c.2144+1107C>T | NP_001191337.1:n.2144+1107C>T | |
| NM_001204410.1:c.*1103C>T | NP_001191339.1:n.*1103C>T | |
| NM_003003.3:c.*1103C>T | NP_002994.3:n.*1103C>T | |
| NM_001143998.2:c.*1103C>T MANE Select | NP_001137470.2:n.*1103C>T | |
| NM_001039573.3:c.2144+1107C>T | NP_001034662.3:n.2144+1107C>T | |
| NM_001143999.2:c.*1103C>T | NP_001137471.2:n.*1103C>T | |
| NM_001144001.2:c.*1103C>T | NP_001137473.2:n.*1103C>T | |
| NM_001204408.2:c.2144+1107C>T | NP_001191337.2:n.2144+1107C>T | |
| NM_001204410.2:c.*1103C>T | NP_001191339.2:n.*1103C>T | |
| NM_003003.4:c.*1103C>T | NP_002994.4:n.*1103C>T |