COSMIC:
COSN15653653 (not active)
COSN15655999 (not active)
COSN26505136 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81656956 (SAS)
Genomes Max Group AF
0.80556466 (SAS)
Exomes Max Group AF
0.81612738 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201286440A>G , CM000664.2:g.201286440A>G | GRCh38 |
| NC_000002.11:g.202151163A>G , CM000664.1:g.202151163A>G | GRCh37 |
| NC_000002.10:g.201859408A>G | NCBI36 |
| NG_007497.1:g.57983A>G , LRG_34:g.57983A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.1305-19A>G | ENSP00000397528.2:n.1305-19A>G | |
| ENST00000440732.6:c.1305-19A>G | ENSP00000396869.2:n.1305-19A>G | |
| ENST00000444430.3:c.1053-19A>G | ENSP00000394434.3:n.1053-19A>G | |
| ENST00000450491.6:c.951-19A>G | ENSP00000391709.2:n.951-19A>G | |
| ENST00000696067.1:c.1305-19A>G | ENSP00000512369.1:n.1305-19A>G | |
| ENST00000696068.1:c.*532-19A>G | ENSP00000512370.1:n.*532-19A>G | |
| ENST00000696069.1:c.1259+1123A>G | ENSP00000512371.1:n.1259+1123A>G | |
| ENST00000696085.1:c.1437-19A>G | ENSP00000512381.1:n.1437-19A>G | |
| ENST00000696086.1:n.579-19A>G | ||
| ENST00000696087.1:c.1260-19A>G | ENSP00000512382.1:n.1260-19A>G | |
| ENST00000673742.1:c.1305-19A>G MANE Select | ENSP00000501268.1:n.1305-19A>G | |
| ENST00000264274.13:c.1053-19A>G | ENSP00000264274.9:n.1053-19A>G | |
| ENST00000264275.9:c.1356-19A>G | ENSP00000264275.5:n.1356-19A>G | |
| ENST00000323492.11:c.1260-19A>G | ENSP00000325722.7:n.1260-19A>G | |
| ENST00000339403.6:n.1526-19A>G | ||
| ENST00000358485.8:c.1482-19A>G | ENSP00000351273.4:n.1482-19A>G | |
| ENST00000392263.6:c.1260-19A>G | ENSP00000376091.2:n.1260-19A>G | |
| ENST00000432109.6:c.1305-19A>G | ENSP00000412523.2:n.1305-19A>G | |
| ENST00000444430.2:c.642-19A>G | ENSP00000394434.2:n.642-19A>G | |
| NM_001080124.1:c.1260-19A>G | NP_001073593.1:n.1260-19A>G | |
| NM_001080125.1:c.1482-19A>G | NP_001073594.1:n.1482-19A>G | |
| NM_001228.4:c.1356-19A>G , LRG_34t1:c.1356-19A>G | NP_001219.2:n.1356-19A>G | |
| NM_033355.3:c.1305-19A>G , LRG_34t2:c.1305-19A>G | NP_203519.1:n.1305-19A>G | |
| NM_033356.3:c.1260-19A>G | NP_203520.1:n.1260-19A>G | |
| NR_111983.1:n.1819-19A>G | ||
| XM_005246885.1:c.1437-19A>G | XP_005246942.1:n.1437-19A>G | |
| XM_005246886.1:c.1305-19A>G | XP_005246943.1:n.1305-19A>G | |
| XM_005246887.1:c.1305-19A>G | XP_005246944.1:n.1305-19A>G | |
| XM_005246888.1:c.1305-19A>G | XP_005246945.1:n.1305-19A>G | |
| XM_005246889.1:c.1305-19A>G | XP_005246946.1:n.1305-19A>G | |
| XM_005246890.2:c.1305-19A>G | XP_005246947.1:n.1305-19A>G | |
| XM_005246891.3:c.1305-19A>G | XP_005246948.1:n.1305-19A>G | |
| XM_005246892.1:c.1260-19A>G | XP_005246949.1:n.1260-19A>G | |
| XM_005246894.2:c.708-19A>G | XP_005246951.1:n.708-19A>G | |
| XM_006712789.1:c.1305-19A>G | XP_006712852.1:n.1305-19A>G | |
| XM_006712790.2:c.1305-19A>G | XP_006712853.1:n.1305-19A>G | |
| XM_006712791.1:c.1230-19A>G | XP_006712854.1:n.1230-19A>G | |
| XM_011511969.1:c.870-19A>G | XP_011510271.1:n.870-19A>G | |
| XM_005246885.2:c.1437-19A>G | XP_005246942.1:n.1437-19A>G | |
| XM_005246886.2:c.1305-19A>G | XP_005246943.1:n.1305-19A>G | |
| XM_005246887.2:c.1305-19A>G | XP_005246944.1:n.1305-19A>G | |
| XM_005246888.2:c.1305-19A>G | XP_005246945.1:n.1305-19A>G | |
| XM_005246889.2:c.1305-19A>G | XP_005246946.1:n.1305-19A>G | |
| XM_005246890.4:c.1305-19A>G | XP_005246947.1:n.1305-19A>G | |
| XM_005246891.5:c.1305-19A>G | XP_005246948.1:n.1305-19A>G | |
| XM_005246892.2:c.1260-19A>G | XP_005246949.1:n.1260-19A>G | |
| XM_005246894.4:c.708-19A>G | XP_005246951.1:n.708-19A>G | |
| XM_006712789.2:c.1305-19A>G | XP_006712852.1:n.1305-19A>G | |
| XM_006712790.4:c.1305-19A>G | XP_006712853.1:n.1305-19A>G | |
| XM_011511969.2:c.870-19A>G | XP_011510271.1:n.870-19A>G | |
| NM_001080124.2:c.1260-19A>G | NP_001073593.1:n.1260-19A>G | |
| NM_001080125.2:c.1482-19A>G | NP_001073594.1:n.1482-19A>G | |
| NM_001372051.1:c.1305-19A>G MANE Select | NP_001358980.1:n.1305-19A>G | |
| NM_033356.4:c.1260-19A>G | NP_203520.1:n.1260-19A>G | |
| NR_111983.2:n.1815-19A>G | ||
| NM_001400642.1:c.1437-19A>G | NP_001387571.1:n.1437-19A>G | |
| NM_001400645.1:c.1338-19A>G | NP_001387574.1:n.1338-19A>G | |
| NM_001400648.1:c.1305-19A>G | NP_001387577.1:n.1305-19A>G | |
| NM_001400651.1:c.1305-19A>G | NP_001387580.1:n.1305-19A>G | |
| NM_001400653.1:c.1305-19A>G | NP_001387582.1:n.1305-19A>G | |
| NM_001400654.1:c.1305-19A>G | NP_001387583.1:n.1305-19A>G | |
| NM_001400655.1:c.1305-19A>G | NP_001387584.1:n.1305-19A>G | |
| NM_001400656.1:c.1305-19A>G | NP_001387585.1:n.1305-19A>G | |
| NM_001400657.1:c.1305-19A>G | NP_001387586.1:n.1305-19A>G | |
| NM_001400658.1:c.1260-19A>G | NP_001387587.1:n.1260-19A>G | |
| NM_001400659.1:c.1260-19A>G | NP_001387588.1:n.1260-19A>G | |
| NM_001400660.1:c.1260-19A>G | NP_001387589.1:n.1260-19A>G | |
| NM_001400661.1:c.1260-19A>G | NP_001387590.1:n.1260-19A>G | |
| NM_001400662.1:c.1260-19A>G | NP_001387591.1:n.1260-19A>G | |
| NM_001400663.1:c.1260-19A>G | NP_001387592.1:n.1260-19A>G | |
| NM_001400664.1:c.1236-19A>G | NP_001387593.1:n.1236-19A>G | |
| NM_001400665.1:c.1230-19A>G | NP_001387594.1:n.1230-19A>G | |
| NM_001400666.1:c.1098-19A>G | NP_001387595.1:n.1098-19A>G | |
| NM_001400667.1:c.1053-19A>G | NP_001387596.1:n.1053-19A>G | |
| NM_001400668.1:c.1053-19A>G | NP_001387597.1:n.1053-19A>G | |
| NM_001400669.1:c.996-19A>G | NP_001387598.1:n.996-19A>G | |
| NM_001400670.1:c.858-19A>G | NP_001387599.1:n.858-19A>G | |
| NM_001400671.1:c.708-19A>G | NP_001387600.1:n.708-19A>G | |
| NM_001400672.1:c.708-19A>G | NP_001387601.1:n.708-19A>G | |
| NM_001400673.1:c.708-19A>G | NP_001387602.1:n.708-19A>G | |
| NM_001400674.1:c.690-19A>G | NP_001387603.1:n.690-19A>G | |
| NM_001400675.1:c.663-19A>G | NP_001387604.1:n.663-19A>G | |
| NM_001400676.1:c.663-19A>G | NP_001387605.1:n.663-19A>G | |
| NM_001400677.1:c.663-19A>G | NP_001387606.1:n.663-19A>G | |
| NM_001400678.1:c.663-19A>G | NP_001387607.1:n.663-19A>G | |
| NM_001400680.1:c.690-19A>G | NP_001387609.1:n.690-19A>G | |
| NM_001400750.1:c.708-19A>G | NP_001387679.1:n.708-19A>G | |
| NM_001400751.1:c.663-19A>G | NP_001387680.1:n.663-19A>G | |
| NR_174564.1:n.1394-19A>G | ||
| NR_174565.1:n.1524-19A>G | ||
| NR_174581.1:n.1550-19A>G | ||
| NR_174583.1:n.1656-19A>G | ||
| NR_174584.1:n.1569-19A>G | ||
| NR_174585.1:n.1587-19A>G | ||
| NR_174586.1:n.1561-19A>G | ||
| NR_174588.1:n.1724-19A>G | ||
| NR_174589.1:n.1519-19A>G | ||
| NR_174590.1:n.1611-19A>G | ||
| NR_174591.1:n.1542-19A>G | ||
| NR_174592.1:n.1887-19A>G | ||
| NR_174593.1:n.1685-19A>G | ||
| NR_174594.1:n.1728-19A>G | ||
| NR_174595.1:n.1643-19A>G | ||
| NR_174596.1:n.1480-19A>G | ||
| NR_174598.1:n.1838-19A>G | ||
| NR_174599.1:n.1222-19A>G | ||
| NR_174600.1:n.1750-19A>G | ||
| NR_174601.1:n.1675-19A>G | ||
| NR_174602.1:n.1545-19A>G |