COSMIC:
COSN15315907 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41922808 (EAS)
Genomes Max Group AF
0.42166343 (EAS)
Exomes Max Group AF
0.41730677 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77811292G>A , CM000663.2:g.77811292G>A | GRCh38 |
| NC_000001.10:g.78276977G>A , CM000663.1:g.78276977G>A | GRCh37 |
| NC_000001.9:g.78049565G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370791.9:c.542-2442G>A MANE Select | ENSP00000359827.4:n.542-2442G>A | |
| ENST00000443751.4:c.542-2442G>A | ENSP00000393675.4:n.542-2442G>A | |
| ENST00000642959.2:c.458-2442G>A | ENSP00000496099.2:n.458-2442G>A | |
| ENST00000643143.2:c.542-2442G>A | ENSP00000495281.2:n.542-2442G>A | |
| ENST00000645756.2:c.542-2442G>A | ENSP00000494444.2:n.542-2442G>A | |
| ENST00000710931.1:c.524-2442G>A | ENSP00000518550.1:n.524-2442G>A | |
| ENST00000710932.1:c.638-2442G>A | ENSP00000518551.1:n.638-2442G>A | |
| ENST00000370791.8:c.638-2442G>A | ENSP00000359827.3:n.638-2442G>A | |
| ENST00000642959.1:c.554-2442G>A | ENSP00000496099.1:n.554-2442G>A | |
| ENST00000643143.1:c.638-2442G>A | ENSP00000495281.1:n.638-2442G>A | |
| ENST00000643390.1:c.542-2442G>A | ENSP00000496647.1:n.542-2442G>A | |
| ENST00000645526.1:c.542-2442G>A | ENSP00000494964.1:n.542-2442G>A | |
| ENST00000645756.1:c.638-2442G>A | ENSP00000494444.1:n.638-2442G>A | |
| ENST00000646892.1:c.542-2442G>A | ENSP00000495239.1:n.542-2442G>A | |
| ENST00000370791.7:c.638-2442G>A | ENSP00000359827.3:n.638-2442G>A | |
| ENST00000427577.1:n.490C>T | ||
| ENST00000443751.3:c.638-2442G>A | ENSP00000393675.3:n.638-2442G>A | |
| ENST00000476203.2:n.146-2442G>A | ||
| NM_001270384.1:c.638-2442G>A | NP_001257313.1:n.638-2442G>A | |
| NM_198549.3:c.638-2442G>A | NP_940951.1:n.638-2442G>A | |
| XM_005270846.3:c.638-2442G>A | XP_005270903.1:n.638-2442G>A | |
| XM_005270847.3:c.542-2442G>A | XP_005270904.1:n.542-2442G>A | |
| XM_005270848.3:c.542-2442G>A | XP_005270905.1:n.542-2442G>A | |
| XM_005270850.3:c.638-2442G>A | XP_005270907.1:n.638-2442G>A | |
| XM_011541422.1:c.542-2442G>A | XP_011539724.1:n.542-2442G>A | |
| XM_011541423.1:c.524-2442G>A | XP_011539725.1:n.524-2442G>A | |
| XM_011541424.1:c.638-2442G>A | XP_011539726.1:n.638-2442G>A | |
| XR_946649.1:n.664-2442G>A | ||
| NM_001363583.1:c.542-2442G>A | NP_001350512.1:n.542-2442G>A | |
| NM_001363584.1:c.542-2442G>A | NP_001350513.1:n.542-2442G>A | |
| NM_001363586.1:c.542-2442G>A | NP_001350515.1:n.542-2442G>A | |
| XM_005270846.4:c.638-2442G>A | XP_005270903.1:n.638-2442G>A | |
| XM_005270847.5:c.542-2442G>A | XP_005270904.1:n.542-2442G>A | |
| XM_005270848.4:c.542-2442G>A | XP_005270905.1:n.542-2442G>A | |
| XM_011541422.2:c.542-2442G>A | XP_011539724.1:n.542-2442G>A | |
| XM_017001227.1:c.542-2442G>A | XP_016856716.1:n.542-2442G>A | |
| XM_017001231.1:c.638-2442G>A | XP_016856720.1:n.638-2442G>A | |
| XM_017001232.1:c.542-2442G>A | XP_016856721.1:n.542-2442G>A | |
| XR_001737157.1:n.664-2442G>A | ||
| NM_001270384.2:c.638-2442G>A | NP_001257313.1:n.638-2442G>A | |
| NM_001394566.1:c.554-2442G>A | NP_001381495.1:n.554-2442G>A | |
| NM_001394567.1:c.542-2442G>A | NP_001381496.1:n.542-2442G>A | |
| NM_001394568.1:c.542-2442G>A | NP_001381497.1:n.542-2442G>A | |
| NM_001394569.1:c.542-2442G>A | NP_001381498.1:n.542-2442G>A | |
| NM_001394570.1:c.542-2442G>A | NP_001381499.1:n.542-2442G>A | |
| NM_001394571.1:c.542-2442G>A | NP_001381500.1:n.542-2442G>A | |
| NM_001394572.1:c.524-2442G>A | NP_001381501.1:n.524-2442G>A | |
| NM_001394573.1:c.638-2442G>A | NP_001381502.1:n.638-2442G>A | |
| NM_001394574.1:c.458-2442G>A | NP_001381503.1:n.458-2442G>A | |
| NM_001394575.1:c.542-2442G>A | NP_001381504.1:n.542-2442G>A | |
| NM_001394576.1:c.542-2442G>A | NP_001381505.1:n.542-2442G>A | |
| NM_198549.4:c.638-2442G>A | NP_940951.1:n.638-2442G>A |