ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030963 (AFR)
Genomes Max Group AF
0.00031887 (AFR)
Exomes Max Group AF
0.00020613 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74035363C>T , CM000677.2:g.74035363C>T | GRCh38 |
| NC_000015.9:g.74327704C>T , CM000677.1:g.74327704C>T | GRCh37 |
| NC_000015.8:g.72114757C>T | NCBI36 |
| NG_029036.1:g.45691C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268058.8:c.1710+833C>T MANE Select | ENSP00000268058.3:n.1710+833C>T | |
| ENST00000268058.7:c.1710+833C>T | ENSP00000268058.3:n.1710+833C>T | |
| ENST00000268059.10:c.1902C>T | ENSP00000268059.6:p.Pro634= | |
| ENST00000354026.10:c.1758C>T | ENSP00000315434.8:p.Pro586= | |
| ENST00000359928.8:c.*35+833C>T | ENSP00000353004.4:n.*35+833C>T | |
| ENST00000395132.6:c.1255-644C>T | ENSP00000378564.2:n.1255-644C>T | |
| ENST00000395135.7:c.1710+833C>T | ENSP00000378567.3:n.1710+833C>T | |
| ENST00000435786.6:c.*707C>T | ENSP00000395576.2:n.*707C>T | |
| ENST00000436891.7:c.*227C>T | ENSP00000394642.3:n.*227C>T | |
| ENST00000562086.1:c.1201C>T | ENSP00000456329.1:n.1201C>T | |
| ENST00000563500.5:c.*1755C>T | ENSP00000457032.1:n.*1755C>T | |
| ENST00000564428.5:c.1566+833C>T | ENSP00000457023.1:n.1566+833C>T | |
| ENST00000565239.5:c.696-672C>T | ||
| ENST00000565898.5:c.1566+833C>T | ENSP00000455838.1:n.1566+833C>T | |
| ENST00000567606.5:c.1011C>T | ||
| ENST00000569477.5:c.*16C>T | ENSP00000455612.1:n.*16C>T | |
| ENST00000569965.5:c.*35+833C>T | ENSP00000456486.1:n.*35+833C>T | |
| NM_002675.3:c.1710+833C>T | NP_002666.1:n.1710+833C>T | |
| NM_033238.2:c.1710+833C>T | NP_150241.2:n.1710+833C>T | |
| NM_033239.2:c.1902C>T | NP_150242.1:p.Pro634= | |
| NM_033240.2:c.*707C>T | NP_150243.2:n.*707C>T | |
| NM_033244.3:c.*227C>T | NP_150247.2:n.*227C>T | |
| NM_033246.2:c.*35+833C>T | NP_150249.1:n.*35+833C>T | |
| NM_033247.2:c.1255-644C>T | NP_150250.2:n.1255-644C>T | |
| NM_033249.2:c.1566+833C>T | NP_150252.1:n.1566+833C>T | |
| NM_033250.2:c.1758C>T | NP_150253.2:p.Pro586= | |
| NM_033238.3:c.1710+833C>T MANE Select | NP_150241.2:n.1710+833C>T | |
| NM_033239.3:c.1902C>T | NP_150242.1:p.Pro634= | |
| NM_033240.3:c.*707C>T | NP_150243.2:n.*707C>T | |
| NM_033244.4:c.*227C>T | NP_150247.2:n.*227C>T | |
| NM_033247.3:c.1255-644C>T | NP_150250.2:n.1255-644C>T | |
| NM_033250.3:c.1758C>T | NP_150253.2:p.Pro586= | |
| NM_002675.4:c.1710+833C>T | NP_002666.1:n.1710+833C>T | |
| NM_033246.3:c.*35+833C>T | NP_150249.1:n.*35+833C>T | |
| NM_033249.3:c.1566+833C>T | NP_150252.1:n.1566+833C>T |