COSMIC:
COSN26732455 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47254898 (EAS)
Genomes Max Group AF
0.46187609 (EAS)
Exomes Max Group AF
0.47225487 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36685820C>T , CM000668.2:g.36685820C>T | GRCh38 |
| NC_000006.11:g.36653597C>T , CM000668.1:g.36653597C>T | GRCh37 |
| NC_000006.10:g.36761575C>T | NCBI36 |
| NG_009364.1:g.12139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.*20C>T MANE Select | ENSP00000244741.6:n.*20C>T | |
| ENST00000244741.9:c.*20C>T | ENSP00000244741.5:n.*20C>T | |
| ENST00000373711.3:c.*20C>T | ENSP00000362815.1:n.*20C>T | |
| ENST00000405375.5:c.*20C>T | ENSP00000384849.1:n.*20C>T | |
| ENST00000448526.6:c.*20C>T | ENSP00000409259.3:n.*20C>T | |
| ENST00000615513.4:c.*20C>T | ENSP00000482768.1:n.*20C>T | |
| NM_000389.4:c.*20C>T | NP_000380.1:n.*20C>T | |
| NM_001220777.1:c.*20C>T | NP_001207706.1:n.*20C>T | |
| NM_001220778.1:c.*20C>T | NP_001207707.1:n.*20C>T | |
| NM_001291549.1:c.*20C>T | NP_001278478.1:n.*20C>T | |
| NM_078467.2:c.*20C>T | NP_510867.1:n.*20C>T | |
| NM_000389.5:c.*20C>T MANE Select | NP_000380.1:n.*20C>T | |
| NM_001220777.2:c.*20C>T | NP_001207706.1:n.*20C>T | |
| NM_001220778.2:c.*20C>T | NP_001207707.1:n.*20C>T | |
| NM_001291549.3:c.*20C>T | NP_001278478.1:n.*20C>T | |
| NM_001374509.1:c.*20C>T | NP_001361438.1:n.*20C>T | |
| NM_001374510.1:c.*20C>T | NP_001361439.1:n.*20C>T | |
| NM_001374511.1:c.*20C>T | NP_001361440.1:n.*20C>T | |
| NM_001374512.1:c.*310C>T | NP_001361441.1:n.*310C>T | |
| NM_001374513.1:c.*20C>T | NP_001361442.1:n.*20C>T | |
| NM_078467.3:c.*20C>T | NP_510867.1:n.*20C>T |