Linked Data
ClinVar Variation Id:
792439
dbSNP Id:
rs1591797830
gnomAD v4:
11-17428391-C-T
MyVariant Identifiers:
chr11:g.17449938C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17428391C>T , CM000673.2:g.17428391C>T | GRCh38 |
| NC_000011.9:g.17449938C>T , CM000673.1:g.17449938C>T | GRCh37 |
| NC_000011.8:g.17406514C>T | NCBI36 |
| NG_008867.1:g.53512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1607G>A | ||
| ENST00000529967.6:n.197G>A | ||
| ENST00000642611.2:n.2004G>A | ||
| ENST00000682051.1:n.1951G>A | ||
| ENST00000682110.1:n.2004G>A | ||
| ENST00000682140.1:c.1935G>A | ENSP00000507829.1:p.Val645= | |
| ENST00000682185.1:n.3243G>A | ||
| ENST00000682204.1:c.*76G>A | ENSP00000507094.1:n.*76G>A | |
| ENST00000682215.1:n.2004G>A | ||
| ENST00000682288.1:c.*366G>A | ENSP00000507506.1:n.*366G>A | |
| ENST00000682442.1:n.2125G>A | ||
| ENST00000682528.1:n.2004G>A | ||
| ENST00000682673.1:n.1951G>A | ||
| ENST00000682805.1:n.2004G>A | ||
| ENST00000682965.1:c.1935G>A | ENSP00000508229.1:p.Val645= | |
| ENST00000683093.1:n.2106G>A | ||
| ENST00000683136.1:c.1935G>A | ENSP00000507768.1:p.Val645= | |
| ENST00000683153.1:n.2163G>A | ||
| ENST00000683253.1:n.3020G>A | ||
| ENST00000683365.1:n.2106G>A | ||
| ENST00000683377.1:n.2004G>A | ||
| ENST00000683456.1:c.1935G>A | ENSP00000508318.1:p.Val645= | |
| ENST00000683522.1:n.2004G>A | ||
| ENST00000683562.1:c.*107G>A | ENSP00000508265.1:n.*107G>A | |
| ENST00000683693.1:n.2004G>A | ||
| ENST00000683725.1:c.1938G>A | ENSP00000507496.1:p.Val646= | |
| ENST00000684010.1:n.2004G>A | ||
| ENST00000684157.1:n.2004G>A | ||
| ENST00000684253.1:n.1910G>A | ||
| ENST00000684288.1:c.*107G>A | ENSP00000507143.1:n.*107G>A | |
| ENST00000684313.1:n.1724-11429G>A | ||
| ENST00000684332.1:n.2077G>A | ||
| ENST00000684371.1:n.2110G>A | ||
| ENST00000684404.1:n.2004G>A | ||
| ENST00000684442.1:n.2004G>A | ||
| ENST00000684555.1:c.*147G>A | ENSP00000507705.1:n.*147G>A | |
| ENST00000684571.1:c.1779G>A | ENSP00000506935.1:p.Val593= | |
| ENST00000684593.1:c.*1643G>A | ENSP00000507005.1:n.*1643G>A | |
| ENST00000684711.1:c.*334G>A | ENSP00000506841.1:n.*334G>A | |
| ENST00000302539.9:c.1938G>A | ENSP00000303960.4:p.Val646= | |
| ENST00000389817.8:c.1938G>A MANE Select | ENSP00000374467.4:p.Val646= | |
| ENST00000532728.6:c.1519G>A | ||
| ENST00000642271.1:c.1935G>A | ENSP00000493749.1:p.Val645= | |
| ENST00000642579.1:c.19G>A | ||
| ENST00000642611.1:n.1889G>A | ||
| ENST00000642902.1:c.1773G>A | ||
| ENST00000643260.1:c.1935G>A | ENSP00000494450.1:p.Val645= | |
| ENST00000643562.1:c.1930G>A | ENSP00000496124.1:p.Glu644Lys | |
| ENST00000644447.1:c.291G>A | ENSP00000496282.1:p.Val97= | |
| ENST00000644472.1:c.*299G>A | ENSP00000495378.1:n.*299G>A | |
| ENST00000644484.1:c.*147G>A | ENSP00000493558.1:n.*147G>A | |
| ENST00000644542.1:c.*1640G>A | ENSP00000495532.1:n.*1640G>A | |
| ENST00000644649.1:c.1108G>A | ||
| ENST00000644675.1:c.*107G>A | ENSP00000494567.1:n.*107G>A | |
| ENST00000644757.1:c.*240G>A | ENSP00000495085.1:n.*240G>A | |
| ENST00000644772.1:c.2004G>A | ENSP00000494321.1:p.Val668= | |
| ENST00000645076.1:c.1190G>A | ||
| ENST00000645744.1:c.*299G>A | ENSP00000494564.1:n.*299G>A | |
| ENST00000645760.1:c.2213G>A | ||
| ENST00000645884.1:c.1935G>A | ENSP00000495516.1:p.Val645= | |
| ENST00000646003.1:c.*76G>A | ENSP00000495259.1:n.*76G>A | |
| ENST00000646207.1:c.*299G>A | ENSP00000495025.1:n.*299G>A | |
| ENST00000646276.1:c.*208G>A | ENSP00000496070.1:n.*208G>A | |
| ENST00000646592.1:c.1161G>A | ||
| ENST00000646902.1:c.1935G>A | ENSP00000494101.1:p.Val645= | |
| ENST00000646993.1:c.*334G>A | ENSP00000493720.1:n.*334G>A | |
| ENST00000647013.1:c.1941G>A | ENSP00000496741.1:n.1941G>A | |
| ENST00000647015.1:c.1686G>A | ENSP00000495389.1:p.Val562= | |
| ENST00000647086.1:c.*1665G>A | ENSP00000493677.1:n.*1665G>A | |
| ENST00000647158.1:c.*76G>A | ENSP00000495744.1:n.*76G>A | |
| ENST00000302539.8:c.1938G>A | ENSP00000303960.4:p.Val646= | |
| ENST00000389817.7:c.1938G>A | ENSP00000374467.3:p.Val646= | |
| ENST00000527905.5:c.1908G>A | ENSP00000431653.1:p.Val636= | |
| NM_000352.4:c.1938G>A | NP_000343.2:p.Val646= | |
| NM_001287174.1:c.1938G>A | NP_001274103.1:p.Val646= | |
| XM_011520331.1:c.1935G>A | XP_011518633.1:p.Val645= | |
| XM_011520332.1:c.1938G>A | XP_011518634.1:p.Val646= | |
| XM_011520333.1:c.435G>A | XP_011518635.1:p.Val145= | |
| XM_011520334.1:c.1938G>A | XP_011518636.1:p.Val646= | |
| XR_930890.1:n.2001G>A | ||
| XR_930891.1:n.2001G>A | ||
| XR_930892.1:n.2001G>A | ||
| XR_930893.1:n.2001G>A | ||
| NM_001351295.1:c.2004G>A | NP_001338224.1:p.Val668= | |
| NM_001351296.1:c.1935G>A | NP_001338225.1:p.Val645= | |
| NM_001351297.1:c.1935G>A | NP_001338226.1:p.Val645= | |
| NR_147094.1:n.2004G>A | ||
| XM_017018197.2:c.2004G>A | XP_016873686.1:p.Val668= | |
| XM_017018199.1:c.2001G>A | XP_016873688.1:p.Val667= | |
| XM_017018201.2:c.2004G>A | XP_016873690.1:p.Val668= | |
| XM_017018202.1:c.501G>A | XP_016873691.1:p.Val167= | |
| XM_017018204.1:c.-106G>A | XP_016873693.1:n.-106G>A | |
| XM_024448668.1:c.303G>A | XP_024304436.1:p.Val101= | |
| XR_001747945.2:n.2076G>A | ||
| XR_001747946.2:n.2010G>A | ||
| XR_002957189.1:n.2076G>A | ||
| NM_000352.6:c.1938G>A MANE Select | NP_000343.2:p.Val646= | |
| NM_001287174.2:c.1938G>A | NP_001274103.1:p.Val646= | |
| NM_001351295.2:c.2004G>A | NP_001338224.1:p.Val668= | |
| NM_001351296.2:c.1935G>A | NP_001338225.1:p.Val645= | |
| NM_001351297.2:c.1935G>A | NP_001338226.1:p.Val645= | |
| NR_147094.2:n.2004G>A | ||
| NM_001287174.3:c.1938G>A | NP_001274103.1:p.Val646= |