COSMIC:
COSN14849728 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96356717 (EAS)
Genomes Max Group AF
0.95912681 (EAS)
Exomes Max Group AF
0.961408 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71652558T>G , CM000667.2:g.71652558T>G | GRCh38 |
| NC_000005.9:g.70948385T>G , CM000667.1:g.70948385T>G | GRCh37 |
| NC_000005.8:g.70984141T>G | NCBI36 |
| NG_008882.1:g.70271T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.3097-111T>G | ||
| ENST00000505787.8:n.3320-111T>G | ||
| ENST00000681968.1:c.982-111T>G | ENSP00000508143.1:n.982-111T>G | |
| ENST00000681991.1:n.1573-111T>G | ||
| ENST00000682045.1:c.1345-111T>G | ENSP00000507329.1:n.1345-111T>G | |
| ENST00000682175.1:n.3210T>G | ||
| ENST00000682214.1:c.1096-111T>G | ENSP00000507336.1:n.1096-111T>G | |
| ENST00000682231.1:n.507-111T>G | ||
| ENST00000682438.1:n.3488-111T>G | ||
| ENST00000682499.1:n.2310-111T>G | ||
| ENST00000682541.1:c.*387-111T>G | ENSP00000507673.1:n.*387-111T>G | |
| ENST00000682640.1:n.1193-111T>G | ||
| ENST00000682667.1:n.1681-111T>G | ||
| ENST00000682687.1:c.*441-111T>G | ENSP00000507945.1:n.*441-111T>G | |
| ENST00000682727.1:c.1480-111T>G | ENSP00000507393.1:n.1480-111T>G | |
| ENST00000682876.1:c.1618-111T>G | ENSP00000508389.1:n.1618-111T>G | |
| ENST00000683098.1:c.*177-111T>G | ENSP00000507670.1:n.*177-111T>G | |
| ENST00000683163.1:n.2206T>G | ||
| ENST00000683258.1:c.*1210-111T>G | ENSP00000507448.1:n.*1210-111T>G | |
| ENST00000683339.1:c.1273-111T>G | ENSP00000507758.1:n.1273-111T>G | |
| ENST00000683403.1:c.1399-111T>G | ENSP00000507896.1:n.1399-111T>G | |
| ENST00000683429.1:c.1096-111T>G | ENSP00000507697.1:n.1096-111T>G | |
| ENST00000683789.1:c.1375-111T>G | ENSP00000507012.1:n.1375-111T>G | |
| ENST00000683847.1:n.1724-111T>G | ||
| ENST00000683882.1:c.*430-111T>G | ENSP00000506735.1:n.*430-111T>G | |
| ENST00000684024.1:c.*1160-111T>G | ENSP00000507175.1:n.*1160-111T>G | |
| ENST00000684132.1:c.692-111T>G | ||
| ENST00000684254.1:c.*1215-111T>G | ENSP00000508001.1:n.*1215-111T>G | |
| ENST00000684310.1:c.655-111T>G | ENSP00000507550.1:n.655-111T>G | |
| ENST00000684473.1:n.888-111T>G | ||
| ENST00000684474.1:n.1125-111T>G | ||
| ENST00000684530.1:c.607-111T>G | ENSP00000507439.1:n.607-111T>G | |
| ENST00000684686.1:n.1108-111T>G | ||
| ENST00000340941.11:c.1489-111T>G MANE Select | ENSP00000343657.6:n.1489-111T>G | |
| ENST00000340941.10:c.1489-111T>G | ENSP00000343657.6:n.1489-111T>G | |
| ENST00000509539.2:c.805-111T>G | ENSP00000425474.2:n.805-111T>G | |
| ENST00000512218.6:c.*441-111T>G | ENSP00000423202.2:n.*441-111T>G | |
| NM_022132.4:c.1489-111T>G | NP_071415.1:n.1489-111T>G | |
| XM_005248567.1:c.1375-111T>G | XP_005248624.1:n.1375-111T>G | |
| NM_001363147.1:c.1375-111T>G | NP_001350076.1:n.1375-111T>G | |
| XR_001742172.1:n.1577-111T>G | ||
| NM_022132.5:c.1489-111T>G MANE Select | NP_071415.1:n.1489-111T>G |