COSMIC:
COSM5358863 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00178671 (AFR)
Genomes Max Group AF
0.00167142 (AFR)
Exomes Max Group AF
0.00169657 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22207347C>T , CM000670.2:g.22207347C>T | GRCh38 |
| NC_000008.10:g.22064860C>T , CM000670.1:g.22064860C>T | GRCh37 |
| NC_000008.9:g.22120805C>T | NCBI36 |
| NG_029659.1:g.47208C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306385.10:c.2406C>T MANE Select | ENSP00000305714.5:p.Tyr802= | |
| ENST00000520626.6:c.*2938C>T | ENSP00000430015.2:n.*2938C>T | |
| ENST00000306385.9:c.2406C>T | ENSP00000305714.5:p.Tyr802= | |
| ENST00000354870.5:c.*1663C>T | ENSP00000346941.5:n.*1663C>T | |
| ENST00000520626.5:c.*2938C>T | ENSP00000430015.1:n.*2938C>T | |
| ENST00000520970.5:c.*770C>T | ENSP00000428332.1:n.*770C>T | |
| ENST00000520982.5:c.*1873C>T | ENSP00000428798.1:n.*1873C>T | |
| NM_006129.4:c.2406C>T | NP_006120.1:p.Tyr802= | |
| NR_033403.1:n.2709C>T | ||
| XR_949458.1:n.2779C>T | ||
| XR_001745579.2:n.3299C>T | ||
| XR_949458.2:n.2721C>T | ||
| NM_006129.5:c.2406C>T MANE Select | NP_006120.1:p.Tyr802= | |
| NR_033403.2:n.2477C>T |