Linked Data
dbSNP Id:
rs187475578
ExAC:
11:17418618 A / G
gnomAD v2:
11-17418618-A-G
gnomAD v4:
11-17397071-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397071A>G , CM000673.2:g.17397071A>G | GRCh38 |
| NC_000011.9:g.17418618A>G , CM000673.1:g.17418618A>G | GRCh37 |
| NC_000011.8:g.17375194A>G | NCBI36 |
| NG_008867.1:g.84832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3565T>C | ||
| ENST00000528374.2:c.568-13T>C | ||
| ENST00000529967.6:n.2328-25T>C | ||
| ENST00000532220.2:n.2212T>C | ||
| ENST00000642611.2:n.4179T>C | ||
| ENST00000644057.2:n.432-25T>C | ||
| ENST00000645004.2:n.1488-25T>C | ||
| ENST00000682051.1:n.4126T>C | ||
| ENST00000682110.1:n.4179T>C | ||
| ENST00000682140.1:c.3985+122T>C | ENSP00000507829.1:n.3985+122T>C | |
| ENST00000682185.1:n.5294-25T>C | ||
| ENST00000682204.1:c.*2127-25T>C | ENSP00000507094.1:n.*2127-25T>C | |
| ENST00000682215.1:n.4546T>C | ||
| ENST00000682288.1:c.*2420-25T>C | ENSP00000507506.1:n.*2420-25T>C | |
| ENST00000682442.1:n.4399T>C | ||
| ENST00000682528.1:n.4256T>C | ||
| ENST00000682673.1:n.4123T>C | ||
| ENST00000682805.1:n.4546T>C | ||
| ENST00000682965.1:c.*411-25T>C | ENSP00000508229.1:n.*411-25T>C | |
| ENST00000683093.1:n.4278T>C | ||
| ENST00000683136.1:c.3872-25T>C | ENSP00000507768.1:n.3872-25T>C | |
| ENST00000683153.1:n.4221T>C | ||
| ENST00000683365.1:n.4281T>C | ||
| ENST00000683377.1:n.4179T>C | ||
| ENST00000683456.1:c.*1126-25T>C | ENSP00000508318.1:n.*1126-25T>C | |
| ENST00000683522.1:n.4179T>C | ||
| ENST00000683562.1:c.*2158-25T>C | ENSP00000508265.1:n.*2158-25T>C | |
| ENST00000683693.1:n.4626T>C | ||
| ENST00000683725.1:c.3989-25T>C | ENSP00000507496.1:n.3989-25T>C | |
| ENST00000684010.1:n.4174T>C | ||
| ENST00000684157.1:n.4179T>C | ||
| ENST00000684253.1:n.4082T>C | ||
| ENST00000684288.1:c.*2161-25T>C | ENSP00000507143.1:n.*2161-25T>C | |
| ENST00000684313.1:n.3611T>C | ||
| ENST00000684332.1:n.4252T>C | ||
| ENST00000684371.1:n.4285T>C | ||
| ENST00000684404.1:n.4222T>C | ||
| ENST00000684442.1:n.4428-25T>C | ||
| ENST00000684555.1:c.*2201-25T>C | ENSP00000507705.1:n.*2201-25T>C | |
| ENST00000684571.1:c.3830-25T>C | ENSP00000506935.1:n.3830-25T>C | |
| ENST00000684593.1:c.*3694-25T>C | ENSP00000507005.1:n.*3694-25T>C | |
| ENST00000684711.1:c.*2385-25T>C | ENSP00000506841.1:n.*2385-25T>C | |
| ENST00000302539.9:c.3992-25T>C | ENSP00000303960.4:n.3992-25T>C | |
| ENST00000389817.8:c.3989-25T>C MANE Select | ENSP00000374467.4:n.3989-25T>C | |
| ENST00000642271.1:c.3986-25T>C | ENSP00000493749.1:n.3986-25T>C | |
| ENST00000642579.1:c.2073-55T>C | ||
| ENST00000642611.1:n.4064T>C | ||
| ENST00000642902.1:c.3771-25T>C | ||
| ENST00000643260.1:c.3989-25T>C | ENSP00000494450.1:n.3989-25T>C | |
| ENST00000643562.1:c.*2086T>C | ENSP00000496124.1:n.*2086T>C | |
| ENST00000643925.1:c.2604T>C | ||
| ENST00000644057.1:n.41T>C | ||
| ENST00000644484.1:c.*2365T>C | ENSP00000493558.1:n.*2365T>C | |
| ENST00000644675.1:c.*2161-25T>C | ENSP00000494567.1:n.*2161-25T>C | |
| ENST00000644757.1:c.*2395T>C | ENSP00000495085.1:n.*2395T>C | |
| ENST00000644772.1:c.4055-25T>C | ENSP00000494321.1:n.4055-25T>C | |
| ENST00000645004.1:n.1619T>C | ||
| ENST00000645076.1:c.3188-25T>C | ||
| ENST00000645417.1:c.1177-25T>C | ||
| ENST00000645744.1:c.*2744T>C | ENSP00000494564.1:n.*2744T>C | |
| ENST00000645760.1:c.4385T>C | ||
| ENST00000645884.1:c.*1247T>C | ENSP00000495516.1:n.*1247T>C | |
| ENST00000646003.1:c.*2066T>C | ENSP00000495259.1:n.*2066T>C | |
| ENST00000646207.1:c.*2826-25T>C | ENSP00000495025.1:n.*2826-25T>C | |
| ENST00000646276.1:c.*2383T>C | ENSP00000496070.1:n.*2383T>C | |
| ENST00000646592.1:c.3295-25T>C | ||
| ENST00000646902.1:c.3986-55T>C | ENSP00000494101.1:n.3986-55T>C | |
| ENST00000646993.1:c.*2506T>C | ENSP00000493720.1:n.*2506T>C | |
| ENST00000647013.1:c.3995-25T>C | ENSP00000496741.1:n.3995-25T>C | |
| ENST00000647015.1:c.3740-25T>C | ENSP00000495389.1:n.3740-25T>C | |
| ENST00000647086.1:c.*3605-55T>C | ENSP00000493677.1:n.*3605-55T>C | |
| ENST00000647158.1:c.*2251T>C | ENSP00000495744.1:n.*2251T>C | |
| ENST00000302539.8:c.3992-25T>C | ENSP00000303960.4:n.3992-25T>C | |
| ENST00000389817.7:c.3989-25T>C | ENSP00000374467.3:n.3989-25T>C | |
| ENST00000527905.5:c.*986T>C | ENSP00000431653.1:n.*986T>C | |
| ENST00000528374.1:c.459-13T>C | ||
| ENST00000531137.1:n.529T>C | ||
| ENST00000531891.1:c.357-55T>C | ||
| ENST00000532220.1:n.438T>C | ||
| NM_000352.4:c.3989-25T>C | NP_000343.2:n.3989-25T>C | |
| NM_001287174.1:c.3992-25T>C | NP_001274103.1:n.3992-25T>C | |
| XM_011520331.1:c.3989-25T>C | XP_011518633.1:n.3989-25T>C | |
| XM_011520332.1:c.3992-25T>C | XP_011518634.1:n.3992-25T>C | |
| XM_011520333.1:c.2489-25T>C | XP_011518635.1:n.2489-25T>C | |
| XR_930890.1:n.4055-25T>C | ||
| NM_001351295.1:c.4055-25T>C | NP_001338224.1:n.4055-25T>C | |
| NM_001351296.1:c.3989-25T>C | NP_001338225.1:n.3989-25T>C | |
| NM_001351297.1:c.3986-25T>C | NP_001338226.1:n.3986-25T>C | |
| NR_147094.1:n.4259T>C | ||
| XM_017018197.2:c.4058-25T>C | XP_016873686.1:n.4058-25T>C | |
| XM_017018199.1:c.4055-25T>C | XP_016873688.1:n.4055-25T>C | |
| XM_017018201.2:c.4058-25T>C | XP_016873690.1:n.4058-25T>C | |
| XM_017018202.1:c.2555-25T>C | XP_016873691.1:n.2555-25T>C | |
| XM_017018204.1:c.1946-25T>C | XP_016873693.1:n.1946-25T>C | |
| XM_024448668.1:c.2357-25T>C | XP_024304436.1:n.2357-25T>C | |
| XR_001747945.2:n.4130-25T>C | ||
| XR_001747946.2:n.4061-25T>C | ||
| XR_002957189.1:n.4701T>C | ||
| NM_000352.6:c.3989-25T>C MANE Select | NP_000343.2:n.3989-25T>C | |
| NM_001287174.2:c.3992-25T>C | NP_001274103.1:n.3992-25T>C | |
| NM_001351295.2:c.4055-25T>C | NP_001338224.1:n.4055-25T>C | |
| NM_001351296.2:c.3989-25T>C | NP_001338225.1:n.3989-25T>C | |
| NM_001351297.2:c.3986-25T>C | NP_001338226.1:n.3986-25T>C | |
| NR_147094.2:n.4259T>C | ||
| NM_001287174.3:c.3992-25T>C | NP_001274103.1:n.3992-25T>C |