Linked Data
dbSNP Id:
rs1211875269
gnomAD v2:
11-17418493-G-T
gnomAD v4:
11-17396946-G-T
COSMIC:
COSM4493030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396946G>T , CM000673.2:g.17396946G>T | GRCh38 |
| NC_000011.9:g.17418493G>T , CM000673.1:g.17418493G>T | GRCh37 |
| NC_000011.8:g.17375069G>T | NCBI36 |
| NG_008867.1:g.84957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3690C>A | ||
| ENST00000528374.2:c.680C>A | ||
| ENST00000529967.6:n.2428C>A | ||
| ENST00000532220.2:n.2337C>A | ||
| ENST00000642611.2:n.4304C>A | ||
| ENST00000644057.2:n.532C>A | ||
| ENST00000645004.2:n.1588C>A | ||
| ENST00000682051.1:n.4251C>A | ||
| ENST00000682110.1:n.4304C>A | ||
| ENST00000682140.1:c.3985+247C>A | ENSP00000507829.1:n.3985+247C>A | |
| ENST00000682185.1:n.5394C>A | ||
| ENST00000682204.1:c.*2227C>A | ENSP00000507094.1:n.*2227C>A | |
| ENST00000682215.1:n.4671C>A | ||
| ENST00000682288.1:c.*2520C>A | ENSP00000507506.1:n.*2520C>A | |
| ENST00000682442.1:n.4524C>A | ||
| ENST00000682528.1:n.4381C>A | ||
| ENST00000682673.1:n.4248C>A | ||
| ENST00000682805.1:n.4671C>A | ||
| ENST00000682965.1:c.*511C>A | ENSP00000508229.1:n.*511C>A | |
| ENST00000683093.1:n.4403C>A | ||
| ENST00000683136.1:c.3972C>A | ENSP00000507768.1:p.His1324Gln | |
| ENST00000683153.1:n.4346C>A | ||
| ENST00000683365.1:n.4406C>A | ||
| ENST00000683377.1:n.4304C>A | ||
| ENST00000683456.1:c.*1226C>A | ENSP00000508318.1:n.*1226C>A | |
| ENST00000683522.1:n.4304C>A | ||
| ENST00000683562.1:c.*2258C>A | ENSP00000508265.1:n.*2258C>A | |
| ENST00000683693.1:n.4751C>A | ||
| ENST00000683725.1:c.4089C>A | ENSP00000507496.1:p.His1363Gln | |
| ENST00000684010.1:n.4299C>A | ||
| ENST00000684157.1:n.4304C>A | ||
| ENST00000684253.1:n.4207C>A | ||
| ENST00000684288.1:c.*2261C>A | ENSP00000507143.1:n.*2261C>A | |
| ENST00000684313.1:n.3736C>A | ||
| ENST00000684332.1:n.4377C>A | ||
| ENST00000684371.1:n.4410C>A | ||
| ENST00000684404.1:n.4347C>A | ||
| ENST00000684442.1:n.4528C>A | ||
| ENST00000684555.1:c.*2301C>A | ENSP00000507705.1:n.*2301C>A | |
| ENST00000684571.1:c.3930C>A | ENSP00000506935.1:p.His1310Gln | |
| ENST00000684593.1:c.*3794C>A | ENSP00000507005.1:n.*3794C>A | |
| ENST00000684711.1:c.*2485C>A | ENSP00000506841.1:n.*2485C>A | |
| ENST00000302539.9:c.4092C>A | ENSP00000303960.4:p.His1364Gln | |
| ENST00000389817.8:c.4089C>A MANE Select | ENSP00000374467.4:p.His1363Gln | |
| ENST00000642271.1:c.4086C>A | ENSP00000493749.1:p.His1362Gln | |
| ENST00000642579.1:c.2143C>A | ||
| ENST00000642611.1:n.4189C>A | ||
| ENST00000642902.1:c.3871C>A | ||
| ENST00000643260.1:c.4089C>A | ENSP00000494450.1:p.His1363Gln | |
| ENST00000643562.1:c.*2211C>A | ENSP00000496124.1:n.*2211C>A | |
| ENST00000643925.1:c.2729C>A | ||
| ENST00000644057.1:n.166C>A | ||
| ENST00000644484.1:c.*2490C>A | ENSP00000493558.1:n.*2490C>A | |
| ENST00000644675.1:c.*2261C>A | ENSP00000494567.1:n.*2261C>A | |
| ENST00000644757.1:c.*2520C>A | ENSP00000495085.1:n.*2520C>A | |
| ENST00000644772.1:c.4155C>A | ENSP00000494321.1:p.His1385Gln | |
| ENST00000645004.1:n.1744C>A | ||
| ENST00000645076.1:c.3288C>A | ||
| ENST00000645417.1:c.1277C>A | ||
| ENST00000645744.1:c.*2869C>A | ENSP00000494564.1:n.*2869C>A | |
| ENST00000645760.1:c.4510C>A | ||
| ENST00000645884.1:c.*1372C>A | ENSP00000495516.1:n.*1372C>A | |
| ENST00000646003.1:c.*2191C>A | ENSP00000495259.1:n.*2191C>A | |
| ENST00000646207.1:c.*2926C>A | ENSP00000495025.1:n.*2926C>A | |
| ENST00000646276.1:c.*2508C>A | ENSP00000496070.1:n.*2508C>A | |
| ENST00000646592.1:c.3395C>A | ||
| ENST00000646902.1:c.4056C>A | ENSP00000494101.1:p.His1352Gln | |
| ENST00000646993.1:c.*2631C>A | ENSP00000493720.1:n.*2631C>A | |
| ENST00000647013.1:c.4095C>A | ENSP00000496741.1:n.4095C>A | |
| ENST00000647015.1:c.3840C>A | ENSP00000495389.1:p.His1280Gln | |
| ENST00000647086.1:c.*3675C>A | ENSP00000493677.1:n.*3675C>A | |
| ENST00000647158.1:c.*2376C>A | ENSP00000495744.1:n.*2376C>A | |
| ENST00000302539.8:c.4092C>A | ENSP00000303960.4:p.His1364Gln | |
| ENST00000389817.7:c.4089C>A | ENSP00000374467.3:p.His1363Gln | |
| ENST00000527905.5:c.*1111C>A | ENSP00000431653.1:n.*1111C>A | |
| ENST00000528374.1:c.571C>A | ||
| ENST00000531137.1:n.654C>A | ||
| ENST00000531891.1:c.427C>A | ||
| ENST00000532220.1:n.563C>A | ||
| NM_000352.4:c.4089C>A | NP_000343.2:p.His1363Gln | |
| NM_001287174.1:c.4092C>A | NP_001274103.1:p.His1364Gln | |
| XM_011520331.1:c.4089C>A | XP_011518633.1:p.His1363Gln | |
| XM_011520332.1:c.4092C>A | XP_011518634.1:p.His1364Gln | |
| XM_011520333.1:c.2589C>A | XP_011518635.1:p.His863Gln | |
| XR_930890.1:n.4155C>A | ||
| NM_001351295.1:c.4155C>A | NP_001338224.1:p.His1385Gln | |
| NM_001351296.1:c.4089C>A | NP_001338225.1:p.His1363Gln | |
| NM_001351297.1:c.4086C>A | NP_001338226.1:p.His1362Gln | |
| NR_147094.1:n.4384C>A | ||
| XM_017018197.2:c.4158C>A | XP_016873686.1:p.His1386Gln | |
| XM_017018199.1:c.4155C>A | XP_016873688.1:p.His1385Gln | |
| XM_017018201.2:c.4158C>A | XP_016873690.1:p.His1386Gln | |
| XM_017018202.1:c.2655C>A | XP_016873691.1:p.His885Gln | |
| XM_017018204.1:c.2046C>A | XP_016873693.1:p.His682Gln | |
| XM_024448668.1:c.2457C>A | XP_024304436.1:p.His819Gln | |
| XR_001747945.2:n.4230C>A | ||
| XR_001747946.2:n.4161C>A | ||
| XR_002957189.1:n.4826C>A | ||
| NM_000352.6:c.4089C>A MANE Select | NP_000343.2:p.His1363Gln | |
| NM_001287174.2:c.4092C>A | NP_001274103.1:p.His1364Gln | |
| NM_001351295.2:c.4155C>A | NP_001338224.1:p.His1385Gln | |
| NM_001351296.2:c.4089C>A | NP_001338225.1:p.His1363Gln | |
| NM_001351297.2:c.4086C>A | NP_001338226.1:p.His1362Gln | |
| NR_147094.2:n.4384C>A | ||
| NM_001287174.3:c.4092C>A | NP_001274103.1:p.His1364Gln |