COSMIC:
COSN26731520 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72252126 (AFR)
Genomes Max Group AF
0.71144291 (AFR)
Exomes Max Group AF
0.73155642 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124753596T>C , CM000673.2:g.124753596T>C | GRCh38 |
| NC_000011.9:g.124623492T>C , CM000673.1:g.124623492T>C | GRCh37 |
| NC_000011.8:g.124128702T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278927.10:c.*50A>G MANE Select | ENSP00000278927.5:n.*50A>G | |
| ENST00000278927.9:c.*50A>G | ENSP00000278927.5:n.*50A>G | |
| ENST00000417453.5:c.*496A>G | ENSP00000389235.1:n.*496A>G | |
| ENST00000444566.5:c.320+618A>G | ENSP00000406689.1:n.320+618A>G | |
| ENST00000464067.1:n.1939A>G | ||
| ENST00000485116.5:n.1769A>G | ||
| NM_138961.2:c.*50A>G | NP_620411.2:n.*50A>G | |
| XM_005271720.3:c.*50A>G | XP_005271777.1:n.*50A>G | |
| XM_011543060.1:c.*50A>G | XP_011541362.1:n.*50A>G | |
| XR_246456.2:n.1382A>G | ||
| NM_138961.3:c.*50A>G MANE Select | NP_620411.2:n.*50A>G |