Linked Data
ClinVar Variation Id:
2161995
ClinVar RCV Id:
RCV003078854
dbSNP Id:
rs913334458
gnomAD v2:
11-17417257-T-C
gnomAD v3:
11-17395710-T-C
gnomAD v4:
11-17395710-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395710T>C , CM000673.2:g.17395710T>C | GRCh38 |
| NC_000011.9:g.17417257T>C , CM000673.1:g.17417257T>C | GRCh37 |
| NC_000011.8:g.17373833T>C | NCBI36 |
| NG_008867.1:g.86193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3808A>G | ||
| ENST00000528374.2:c.798A>G | ||
| ENST00000529967.6:n.2546A>G | ||
| ENST00000532220.2:n.3440A>G | ||
| ENST00000642611.2:n.5540A>G | ||
| ENST00000644057.2:n.783A>G | ||
| ENST00000645004.2:n.1706A>G | ||
| ENST00000682051.1:n.4369A>G | ||
| ENST00000682110.1:n.4422A>G | ||
| ENST00000682140.1:c.4073A>G | ENSP00000507829.1:p.His1358Arg | |
| ENST00000682185.1:n.5512A>G | ||
| ENST00000682204.1:c.*2345A>G | ENSP00000507094.1:n.*2345A>G | |
| ENST00000682215.1:n.4789A>G | ||
| ENST00000682288.1:c.*2638A>G | ENSP00000507506.1:n.*2638A>G | |
| ENST00000682442.1:n.4642A>G | ||
| ENST00000682528.1:n.4499A>G | ||
| ENST00000682673.1:n.4366A>G | ||
| ENST00000682805.1:n.4827A>G | ||
| ENST00000682965.1:c.*629A>G | ENSP00000508229.1:n.*629A>G | |
| ENST00000683093.1:n.5506A>G | ||
| ENST00000683136.1:c.4090A>G | ENSP00000507768.1:p.Ile1364Val | |
| ENST00000683153.1:n.4464A>G | ||
| ENST00000683365.1:n.4524A>G | ||
| ENST00000683377.1:n.4422A>G | ||
| ENST00000683456.1:c.*1344A>G | ENSP00000508318.1:n.*1344A>G | |
| ENST00000683522.1:n.4422A>G | ||
| ENST00000683562.1:c.*2376A>G | ENSP00000508265.1:n.*2376A>G | |
| ENST00000683693.1:n.5987A>G | ||
| ENST00000683725.1:c.4207A>G | ENSP00000507496.1:p.Ile1403Val | |
| ENST00000684010.1:n.4417A>G | ||
| ENST00000684157.1:n.5407A>G | ||
| ENST00000684253.1:n.4325A>G | ||
| ENST00000684288.1:c.*2379A>G | ENSP00000507143.1:n.*2379A>G | |
| ENST00000684313.1:n.3854A>G | ||
| ENST00000684332.1:n.4495A>G | ||
| ENST00000684371.1:n.4528A>G | ||
| ENST00000684404.1:n.5450A>G | ||
| ENST00000684442.1:n.4646A>G | ||
| ENST00000684555.1:c.*2419A>G | ENSP00000507705.1:n.*2419A>G | |
| ENST00000684571.1:c.4048A>G | ENSP00000506935.1:p.Ile1350Val | |
| ENST00000684593.1:c.*3912A>G | ENSP00000507005.1:n.*3912A>G | |
| ENST00000684711.1:c.*2603A>G | ENSP00000506841.1:n.*2603A>G | |
| ENST00000302539.9:c.4210A>G | ENSP00000303960.4:p.Ile1404Val | |
| ENST00000389817.8:c.4207A>G MANE Select | ENSP00000374467.4:p.Ile1403Val | |
| ENST00000642271.1:c.4204A>G | ENSP00000493749.1:p.Ile1402Val | |
| ENST00000642579.1:c.2261A>G | ||
| ENST00000642611.1:n.5425A>G | ||
| ENST00000642902.1:c.3989A>G | ||
| ENST00000643260.1:c.4207A>G | ENSP00000494450.1:p.Ile1403Val | |
| ENST00000643562.1:c.*2329A>G | ENSP00000496124.1:n.*2329A>G | |
| ENST00000643925.1:c.2847A>G | ||
| ENST00000644057.1:n.284A>G | ||
| ENST00000644484.1:c.*3593A>G | ENSP00000493558.1:n.*3593A>G | |
| ENST00000644675.1:c.*2379A>G | ENSP00000494567.1:n.*2379A>G | |
| ENST00000644757.1:c.*3202+554A>G | ENSP00000495085.1:n.*3202+554A>G | |
| ENST00000644772.1:c.4273A>G | ENSP00000494321.1:p.Ile1425Val | |
| ENST00000645004.1:n.1900A>G | ||
| ENST00000645076.1:c.3406A>G | ||
| ENST00000645417.1:c.1395A>G | ||
| ENST00000645744.1:c.*3964-72A>G | ENSP00000494564.1:n.*3964-72A>G | |
| ENST00000645760.1:c.4628A>G | ||
| ENST00000645884.1:c.*1490A>G | ENSP00000495516.1:n.*1490A>G | |
| ENST00000646003.1:c.*2301-72A>G | ENSP00000495259.1:n.*2301-72A>G | |
| ENST00000646207.1:c.*3044A>G | ENSP00000495025.1:n.*3044A>G | |
| ENST00000646276.1:c.*3611A>G | ENSP00000496070.1:n.*3611A>G | |
| ENST00000646592.1:c.3513A>G | ||
| ENST00000646902.1:c.4174A>G | ENSP00000494101.1:p.Ile1392Val | |
| ENST00000646993.1:c.*2749A>G | ENSP00000493720.1:n.*2749A>G | |
| ENST00000647013.1:c.4213A>G | ENSP00000496741.1:n.4213A>G | |
| ENST00000647015.1:c.3958A>G | ENSP00000495389.1:p.Ile1320Val | |
| ENST00000647086.1:c.*3793A>G | ENSP00000493677.1:n.*3793A>G | |
| ENST00000647158.1:c.*2494A>G | ENSP00000495744.1:n.*2494A>G | |
| ENST00000302539.8:c.4210A>G | ENSP00000303960.4:p.Ile1404Val | |
| ENST00000389817.7:c.4207A>G | ENSP00000374467.3:p.Ile1403Val | |
| ENST00000525022.1:n.206A>G | ||
| ENST00000526037.5:n.71A>G | ||
| ENST00000526168.5:c.67-72A>G | ||
| ENST00000531642.5:c.43A>G | ||
| NM_000352.4:c.4207A>G | NP_000343.2:p.Ile1403Val | |
| NM_001287174.1:c.4210A>G | NP_001274103.1:p.Ile1404Val | |
| XM_011520331.1:c.4207A>G | XP_011518633.1:p.Ile1403Val | |
| XM_011520332.1:c.4210A>G | XP_011518634.1:p.Ile1404Val | |
| XM_011520333.1:c.2707A>G | XP_011518635.1:p.Ile903Val | |
| XR_930890.1:n.4273A>G | ||
| NM_001351295.1:c.4273A>G | NP_001338224.1:p.Ile1425Val | |
| NM_001351296.1:c.4207A>G | NP_001338225.1:p.Ile1403Val | |
| NM_001351297.1:c.4204A>G | NP_001338226.1:p.Ile1402Val | |
| NR_147094.1:n.4502A>G | ||
| XM_017018197.2:c.4276A>G | XP_016873686.1:p.Ile1426Val | |
| XM_017018199.1:c.4273A>G | XP_016873688.1:p.Ile1425Val | |
| XM_017018201.2:c.4276A>G | XP_016873690.1:p.Ile1426Val | |
| XM_017018202.1:c.2773A>G | XP_016873691.1:p.Ile925Val | |
| XM_017018204.1:c.2164A>G | XP_016873693.1:p.Ile722Val | |
| XM_024448668.1:c.2575A>G | XP_024304436.1:p.Ile859Val | |
| XR_001747945.2:n.4348A>G | ||
| XR_001747946.2:n.4279A>G | ||
| XR_002957189.1:n.6062A>G | ||
| NM_000352.6:c.4207A>G MANE Select | NP_000343.2:p.Ile1403Val | |
| NM_001287174.2:c.4210A>G | NP_001274103.1:p.Ile1404Val | |
| NM_001351295.2:c.4273A>G | NP_001338224.1:p.Ile1425Val | |
| NM_001351296.2:c.4207A>G | NP_001338225.1:p.Ile1403Val | |
| NM_001351297.2:c.4204A>G | NP_001338226.1:p.Ile1402Val | |
| NR_147094.2:n.4502A>G | ||
| NM_001287174.3:c.4210A>G | NP_001274103.1:p.Ile1404Val |