Linked Data
ClinVar Variation Id:
157704
ClinVar RCV Id:
RCV000145002
RCV001533243
RCV001533240
RCV001533242
RCV001533241
RCV001610440
RCV002243804
RCV002243805
dbSNP Id:
rs1109591
ExAC:
11:17414715 T / C
gnomAD v2:
11-17414715-T-C
gnomAD v3:
11-17393168-T-C
gnomAD v4:
11-17393168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393168T>C , CM000673.2:g.17393168T>C | GRCh38 |
| NC_000011.9:g.17414715T>C , CM000673.1:g.17414715T>C | GRCh37 |
| NC_000011.8:g.17371291T>C | NCBI36 |
| NG_008867.1:g.88735A>G | |
| NG_012446.1:g.492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4210-40A>G | ||
| ENST00000526037.6:n.544-40A>G | ||
| ENST00000528374.2:c.1200-40A>G | ||
| ENST00000529967.6:n.2948-40A>G | ||
| ENST00000532220.2:n.3842-40A>G | ||
| ENST00000642611.2:n.5942-40A>G | ||
| ENST00000644057.2:n.1185-40A>G | ||
| ENST00000645004.2:n.2108-40A>G | ||
| ENST00000682051.1:n.4771-40A>G | ||
| ENST00000682110.1:n.4824-40A>G | ||
| ENST00000682140.1:c.*395-40A>G | ENSP00000507829.1:n.*395-40A>G | |
| ENST00000682185.1:n.5914-40A>G | ||
| ENST00000682204.1:c.*2747-40A>G | ENSP00000507094.1:n.*2747-40A>G | |
| ENST00000682215.1:n.5191-40A>G | ||
| ENST00000682288.1:c.*3040-40A>G | ENSP00000507506.1:n.*3040-40A>G | |
| ENST00000682442.1:n.5044-40A>G | ||
| ENST00000682528.1:n.4901-40A>G | ||
| ENST00000682673.1:n.4768-40A>G | ||
| ENST00000682805.1:n.5229-40A>G | ||
| ENST00000682965.1:c.*1031-40A>G | ENSP00000508229.1:n.*1031-40A>G | |
| ENST00000683093.1:n.5804-40A>G | ||
| ENST00000683136.1:c.4492-40A>G | ENSP00000507768.1:n.4492-40A>G | |
| ENST00000683153.1:n.4866-40A>G | ||
| ENST00000683365.1:n.4926-40A>G | ||
| ENST00000683377.1:n.4720-40A>G | ||
| ENST00000683456.1:c.*1746-40A>G | ENSP00000508318.1:n.*1746-40A>G | |
| ENST00000683522.1:n.4906-40A>G | ||
| ENST00000683562.1:c.*2674-40A>G | ENSP00000508265.1:n.*2674-40A>G | |
| ENST00000683693.1:n.6285-40A>G | ||
| ENST00000683725.1:c.*74-40A>G | ENSP00000507496.1:n.*74-40A>G | |
| ENST00000684010.1:n.4819-40A>G | ||
| ENST00000684014.1:n.796-40A>G | ||
| ENST00000684157.1:n.5809-40A>G | ||
| ENST00000684253.1:n.4727-40A>G | ||
| ENST00000684288.1:c.*2781-40A>G | ENSP00000507143.1:n.*2781-40A>G | |
| ENST00000684313.1:n.4256-40A>G | ||
| ENST00000684332.1:n.4897-40A>G | ||
| ENST00000684371.1:n.4930-40A>G | ||
| ENST00000684404.1:n.5852-40A>G | ||
| ENST00000684442.1:n.5048-40A>G | ||
| ENST00000684555.1:c.*2821-40A>G | ENSP00000507705.1:n.*2821-40A>G | |
| ENST00000684571.1:c.4450-40A>G | ENSP00000506935.1:n.4450-40A>G | |
| ENST00000684593.1:c.*4314-40A>G | ENSP00000507005.1:n.*4314-40A>G | |
| ENST00000684711.1:c.*3005-40A>G | ENSP00000506841.1:n.*3005-40A>G | |
| ENST00000302539.9:c.4612-40A>G | ENSP00000303960.4:n.4612-40A>G | |
| ENST00000389817.8:c.4609-40A>G MANE Select | ENSP00000374467.4:n.4609-40A>G | |
| ENST00000642271.1:c.4606-40A>G | ENSP00000493749.1:n.4606-40A>G | |
| ENST00000642579.1:c.2663-40A>G | ||
| ENST00000642611.1:n.5827-40A>G | ||
| ENST00000642902.1:c.4391-40A>G | ||
| ENST00000643260.1:c.4609-40A>G | ENSP00000494450.1:n.4609-40A>G | |
| ENST00000643562.1:c.*2731-40A>G | ENSP00000496124.1:n.*2731-40A>G | |
| ENST00000643925.1:c.3186-40A>G | ||
| ENST00000644057.1:n.768-40A>G | ||
| ENST00000644484.1:c.*3995-40A>G | ENSP00000493558.1:n.*3995-40A>G | |
| ENST00000644675.1:c.*2781-40A>G | ENSP00000494567.1:n.*2781-40A>G | |
| ENST00000644757.1:c.*3203-188A>G | ENSP00000495085.1:n.*3203-188A>G | |
| ENST00000644772.1:c.4675-40A>G | ENSP00000494321.1:n.4675-40A>G | |
| ENST00000645004.1:n.2302-40A>G | ||
| ENST00000645076.1:c.3704-40A>G | ||
| ENST00000645417.1:c.1797-40A>G | ||
| ENST00000645744.1:c.*4294-40A>G | ENSP00000494564.1:n.*4294-40A>G | |
| ENST00000645760.1:c.5030-40A>G | ||
| ENST00000645884.1:c.*1892-40A>G | ENSP00000495516.1:n.*1892-40A>G | |
| ENST00000646003.1:c.*2631-40A>G | ENSP00000495259.1:n.*2631-40A>G | |
| ENST00000646207.1:c.*3446-40A>G | ENSP00000495025.1:n.*3446-40A>G | |
| ENST00000646276.1:c.*4013-40A>G | ENSP00000496070.1:n.*4013-40A>G | |
| ENST00000646592.1:c.3915-40A>G | ||
| ENST00000646902.1:c.4576-40A>G | ENSP00000494101.1:n.4576-40A>G | |
| ENST00000646993.1:c.*3047-40A>G | ENSP00000493720.1:n.*3047-40A>G | |
| ENST00000647015.1:c.4360-40A>G | ENSP00000495389.1:n.4360-40A>G | |
| ENST00000647086.1:c.*4195-40A>G | ENSP00000493677.1:n.*4195-40A>G | |
| ENST00000647158.1:c.*2896-40A>G | ENSP00000495744.1:n.*2896-40A>G | |
| ENST00000302539.8:c.4612-40A>G | ENSP00000303960.4:n.4612-40A>G | |
| ENST00000389817.7:c.4609-40A>G | ENSP00000374467.3:n.4609-40A>G | |
| ENST00000525022.1:n.548A>G | ||
| ENST00000526037.5:n.369-40A>G | ||
| ENST00000526168.5:c.397-40A>G | ||
| ENST00000531642.5:c.640-40A>G | ||
| NM_000352.4:c.4609-40A>G | NP_000343.2:n.4609-40A>G | |
| NM_001287174.1:c.4612-40A>G | NP_001274103.1:n.4612-40A>G | |
| XM_011520331.1:c.4609-40A>G | XP_011518633.1:n.4609-40A>G | |
| XM_011520333.1:c.3109-40A>G | XP_011518635.1:n.3109-40A>G | |
| XR_930890.1:n.4571-40A>G | ||
| NM_001351295.1:c.4675-40A>G | NP_001338224.1:n.4675-40A>G | |
| NM_001351296.1:c.4609-40A>G | NP_001338225.1:n.4609-40A>G | |
| NM_001351297.1:c.4606-40A>G | NP_001338226.1:n.4606-40A>G | |
| NR_147094.1:n.4904-40A>G | ||
| XM_017018197.2:c.4678-40A>G | XP_016873686.1:n.4678-40A>G | |
| XM_017018199.1:c.4675-40A>G | XP_016873688.1:n.4675-40A>G | |
| XM_017018202.1:c.3175-40A>G | XP_016873691.1:n.3175-40A>G | |
| XM_017018204.1:c.2566-40A>G | XP_016873693.1:n.2566-40A>G | |
| XM_024448668.1:c.2977-40A>G | XP_024304436.1:n.2977-40A>G | |
| XR_001747945.2:n.4646-40A>G | ||
| XR_001747946.2:n.4577-40A>G | ||
| XR_002957189.1:n.6360-40A>G | ||
| NM_000352.6:c.4609-40A>G MANE Select | NP_000343.2:n.4609-40A>G | |
| NM_001287174.2:c.4612-40A>G | NP_001274103.1:n.4612-40A>G | |
| NM_001351295.2:c.4675-40A>G | NP_001338224.1:n.4675-40A>G | |
| NM_001351296.2:c.4609-40A>G | NP_001338225.1:n.4609-40A>G | |
| NM_001351297.2:c.4606-40A>G | NP_001338226.1:n.4606-40A>G | |
| NR_147094.2:n.4904-40A>G | ||
| NM_001287174.3:c.4612-40A>G | NP_001274103.1:n.4612-40A>G |