Linked Data
dbSNP Id:
rs781079319
ExAC:
11:17418595 T / C
gnomAD v2:
11-17418595-T-C
gnomAD v4:
11-17397048-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397048T>C , CM000673.2:g.17397048T>C | GRCh38 |
| NC_000011.9:g.17418595T>C , CM000673.1:g.17418595T>C | GRCh37 |
| NC_000011.8:g.17375171T>C | NCBI36 |
| NG_008867.1:g.84855A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3588A>G | ||
| ENST00000528374.2:c.578A>G | ||
| ENST00000529967.6:n.2328-2A>G | ||
| ENST00000532220.2:n.2235A>G | ||
| ENST00000642611.2:n.4202A>G | ||
| ENST00000644057.2:n.432-2A>G | ||
| ENST00000645004.2:n.1488-2A>G | ||
| ENST00000682051.1:n.4149A>G | ||
| ENST00000682110.1:n.4202A>G | ||
| ENST00000682140.1:c.3985+145A>G | ENSP00000507829.1:n.3985+145A>G | |
| ENST00000682185.1:n.5294-2A>G | ||
| ENST00000682204.1:c.*2127-2A>G | ENSP00000507094.1:n.*2127-2A>G | |
| ENST00000682215.1:n.4569A>G | ||
| ENST00000682288.1:c.*2420-2A>G | ENSP00000507506.1:n.*2420-2A>G | |
| ENST00000682442.1:n.4422A>G | ||
| ENST00000682528.1:n.4279A>G | ||
| ENST00000682673.1:n.4146A>G | ||
| ENST00000682805.1:n.4569A>G | ||
| ENST00000682965.1:c.*411-2A>G | ENSP00000508229.1:n.*411-2A>G | |
| ENST00000683093.1:n.4301A>G | ||
| ENST00000683136.1:c.3872-2A>G | ENSP00000507768.1:n.3872-2A>G | |
| ENST00000683153.1:n.4244A>G | ||
| ENST00000683365.1:n.4304A>G | ||
| ENST00000683377.1:n.4202A>G | ||
| ENST00000683456.1:c.*1126-2A>G | ENSP00000508318.1:n.*1126-2A>G | |
| ENST00000683522.1:n.4202A>G | ||
| ENST00000683562.1:c.*2158-2A>G | ENSP00000508265.1:n.*2158-2A>G | |
| ENST00000683693.1:n.4649A>G | ||
| ENST00000683725.1:c.3989-2A>G | ENSP00000507496.1:n.3989-2A>G | |
| ENST00000684010.1:n.4197A>G | ||
| ENST00000684157.1:n.4202A>G | ||
| ENST00000684253.1:n.4105A>G | ||
| ENST00000684288.1:c.*2161-2A>G | ENSP00000507143.1:n.*2161-2A>G | |
| ENST00000684313.1:n.3634A>G | ||
| ENST00000684332.1:n.4275A>G | ||
| ENST00000684371.1:n.4308A>G | ||
| ENST00000684404.1:n.4245A>G | ||
| ENST00000684442.1:n.4428-2A>G | ||
| ENST00000684555.1:c.*2201-2A>G | ENSP00000507705.1:n.*2201-2A>G | |
| ENST00000684571.1:c.3830-2A>G | ENSP00000506935.1:n.3830-2A>G | |
| ENST00000684593.1:c.*3694-2A>G | ENSP00000507005.1:n.*3694-2A>G | |
| ENST00000684711.1:c.*2385-2A>G | ENSP00000506841.1:n.*2385-2A>G | |
| ENST00000302539.9:c.3992-2A>G | ENSP00000303960.4:n.3992-2A>G | |
| ENST00000389817.8:c.3989-2A>G MANE Select | ENSP00000374467.4:n.3989-2A>G | |
| ENST00000642271.1:c.3986-2A>G | ENSP00000493749.1:n.3986-2A>G | |
| ENST00000642579.1:c.2073-32A>G | ||
| ENST00000642611.1:n.4087A>G | ||
| ENST00000642902.1:c.3771-2A>G | ||
| ENST00000643260.1:c.3989-2A>G | ENSP00000494450.1:n.3989-2A>G | |
| ENST00000643562.1:c.*2109A>G | ENSP00000496124.1:n.*2109A>G | |
| ENST00000643925.1:c.2627A>G | ||
| ENST00000644057.1:n.64A>G | ||
| ENST00000644484.1:c.*2388A>G | ENSP00000493558.1:n.*2388A>G | |
| ENST00000644675.1:c.*2161-2A>G | ENSP00000494567.1:n.*2161-2A>G | |
| ENST00000644757.1:c.*2418A>G | ENSP00000495085.1:n.*2418A>G | |
| ENST00000644772.1:c.4055-2A>G | ENSP00000494321.1:n.4055-2A>G | |
| ENST00000645004.1:n.1642A>G | ||
| ENST00000645076.1:c.3188-2A>G | ||
| ENST00000645417.1:c.1177-2A>G | ||
| ENST00000645744.1:c.*2767A>G | ENSP00000494564.1:n.*2767A>G | |
| ENST00000645760.1:c.4408A>G | ||
| ENST00000645884.1:c.*1270A>G | ENSP00000495516.1:n.*1270A>G | |
| ENST00000646003.1:c.*2089A>G | ENSP00000495259.1:n.*2089A>G | |
| ENST00000646207.1:c.*2826-2A>G | ENSP00000495025.1:n.*2826-2A>G | |
| ENST00000646276.1:c.*2406A>G | ENSP00000496070.1:n.*2406A>G | |
| ENST00000646592.1:c.3295-2A>G | ||
| ENST00000646902.1:c.3986-32A>G | ENSP00000494101.1:n.3986-32A>G | |
| ENST00000646993.1:c.*2529A>G | ENSP00000493720.1:n.*2529A>G | |
| ENST00000647013.1:c.3995-2A>G | ENSP00000496741.1:n.3995-2A>G | |
| ENST00000647015.1:c.3740-2A>G | ENSP00000495389.1:n.3740-2A>G | |
| ENST00000647086.1:c.*3605-32A>G | ENSP00000493677.1:n.*3605-32A>G | |
| ENST00000647158.1:c.*2274A>G | ENSP00000495744.1:n.*2274A>G | |
| ENST00000302539.8:c.3992-2A>G | ENSP00000303960.4:n.3992-2A>G | |
| ENST00000389817.7:c.3989-2A>G | ENSP00000374467.3:n.3989-2A>G | |
| ENST00000527905.5:c.*1009A>G | ENSP00000431653.1:n.*1009A>G | |
| ENST00000528374.1:c.469A>G | ||
| ENST00000531137.1:n.552A>G | ||
| ENST00000531891.1:c.357-32A>G | ||
| ENST00000532220.1:n.461A>G | ||
| NM_000352.4:c.3989-2A>G | NP_000343.2:n.3989-2A>G | |
| NM_001287174.1:c.3992-2A>G | NP_001274103.1:n.3992-2A>G | |
| XM_011520331.1:c.3989-2A>G | XP_011518633.1:n.3989-2A>G | |
| XM_011520332.1:c.3992-2A>G | XP_011518634.1:n.3992-2A>G | |
| XM_011520333.1:c.2489-2A>G | XP_011518635.1:n.2489-2A>G | |
| XR_930890.1:n.4055-2A>G | ||
| NM_001351295.1:c.4055-2A>G | NP_001338224.1:n.4055-2A>G | |
| NM_001351296.1:c.3989-2A>G | NP_001338225.1:n.3989-2A>G | |
| NM_001351297.1:c.3986-2A>G | NP_001338226.1:n.3986-2A>G | |
| NR_147094.1:n.4282A>G | ||
| XM_017018197.2:c.4058-2A>G | XP_016873686.1:n.4058-2A>G | |
| XM_017018199.1:c.4055-2A>G | XP_016873688.1:n.4055-2A>G | |
| XM_017018201.2:c.4058-2A>G | XP_016873690.1:n.4058-2A>G | |
| XM_017018202.1:c.2555-2A>G | XP_016873691.1:n.2555-2A>G | |
| XM_017018204.1:c.1946-2A>G | XP_016873693.1:n.1946-2A>G | |
| XM_024448668.1:c.2357-2A>G | XP_024304436.1:n.2357-2A>G | |
| XR_001747945.2:n.4130-2A>G | ||
| XR_001747946.2:n.4061-2A>G | ||
| XR_002957189.1:n.4724A>G | ||
| NM_000352.6:c.3989-2A>G MANE Select | NP_000343.2:n.3989-2A>G | |
| NM_001287174.2:c.3992-2A>G | NP_001274103.1:n.3992-2A>G | |
| NM_001351295.2:c.4055-2A>G | NP_001338224.1:n.4055-2A>G | |
| NM_001351296.2:c.3989-2A>G | NP_001338225.1:n.3989-2A>G | |
| NM_001351297.2:c.3986-2A>G | NP_001338226.1:n.3986-2A>G | |
| NR_147094.2:n.4282A>G | ||
| NM_001287174.3:c.3992-2A>G | NP_001274103.1:n.3992-2A>G |