Linked Data
ClinVar Variation Id:
288731
dbSNP Id:
rs200563930
ExAC:
11:17418752 C / T
gnomAD v2:
11-17418752-C-T
gnomAD v3:
11-17397205-C-T
gnomAD v4:
11-17397205-C-T
COSMIC:
COSM428762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397205C>T , CM000673.2:g.17397205C>T | GRCh38 |
| NC_000011.9:g.17418752C>T , CM000673.1:g.17418752C>T | GRCh37 |
| NC_000011.8:g.17375328C>T | NCBI36 |
| NG_008867.1:g.84698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3431G>A | ||
| ENST00000528374.2:c.555G>A | ||
| ENST00000529967.6:n.2315G>A | ||
| ENST00000532220.2:n.2078G>A | ||
| ENST00000642611.2:n.4045G>A | ||
| ENST00000644057.2:n.419G>A | ||
| ENST00000645004.2:n.1475G>A | ||
| ENST00000682051.1:n.3992G>A | ||
| ENST00000682110.1:n.4045G>A | ||
| ENST00000682140.1:c.3973G>A | ENSP00000507829.1:p.Glu1325Lys | |
| ENST00000682185.1:n.5281G>A | ||
| ENST00000682204.1:c.*2114G>A | ENSP00000507094.1:n.*2114G>A | |
| ENST00000682215.1:n.4412G>A | ||
| ENST00000682288.1:c.*2407G>A | ENSP00000507506.1:n.*2407G>A | |
| ENST00000682442.1:n.4265G>A | ||
| ENST00000682528.1:n.4122G>A | ||
| ENST00000682673.1:n.3989G>A | ||
| ENST00000682805.1:n.4412G>A | ||
| ENST00000682965.1:c.*398G>A | ENSP00000508229.1:n.*398G>A | |
| ENST00000683093.1:n.4144G>A | ||
| ENST00000683136.1:c.3859G>A | ENSP00000507768.1:p.Glu1287Lys | |
| ENST00000683153.1:n.4087G>A | ||
| ENST00000683365.1:n.4147G>A | ||
| ENST00000683377.1:n.4045G>A | ||
| ENST00000683456.1:c.*1113G>A | ENSP00000508318.1:n.*1113G>A | |
| ENST00000683522.1:n.4045G>A | ||
| ENST00000683562.1:c.*2145G>A | ENSP00000508265.1:n.*2145G>A | |
| ENST00000683693.1:n.4492G>A | ||
| ENST00000683725.1:c.3976G>A | ENSP00000507496.1:p.Glu1326Lys | |
| ENST00000684010.1:n.4040G>A | ||
| ENST00000684157.1:n.4045G>A | ||
| ENST00000684253.1:n.3948G>A | ||
| ENST00000684288.1:c.*2148G>A | ENSP00000507143.1:n.*2148G>A | |
| ENST00000684313.1:n.3477G>A | ||
| ENST00000684332.1:n.4118G>A | ||
| ENST00000684371.1:n.4151G>A | ||
| ENST00000684404.1:n.4088G>A | ||
| ENST00000684442.1:n.4415G>A | ||
| ENST00000684555.1:c.*2188G>A | ENSP00000507705.1:n.*2188G>A | |
| ENST00000684571.1:c.3817G>A | ENSP00000506935.1:p.Glu1273Lys | |
| ENST00000684593.1:c.*3681G>A | ENSP00000507005.1:n.*3681G>A | |
| ENST00000684711.1:c.*2372G>A | ENSP00000506841.1:n.*2372G>A | |
| ENST00000302539.9:c.3979G>A | ENSP00000303960.4:p.Glu1327Lys | |
| ENST00000389817.8:c.3976G>A MANE Select | ENSP00000374467.4:p.Glu1326Lys | |
| ENST00000642271.1:c.3973G>A | ENSP00000493749.1:p.Glu1325Lys | |
| ENST00000642579.1:c.2060G>A | ||
| ENST00000642611.1:n.3930G>A | ||
| ENST00000642902.1:c.3758G>A | ||
| ENST00000643260.1:c.3976G>A | ENSP00000494450.1:p.Glu1326Lys | |
| ENST00000643562.1:c.*1952G>A | ENSP00000496124.1:n.*1952G>A | |
| ENST00000643925.1:c.2470G>A | ||
| ENST00000644447.1:c.2427G>A | ENSP00000496282.1:n.2427G>A | |
| ENST00000644484.1:c.*2231G>A | ENSP00000493558.1:n.*2231G>A | |
| ENST00000644675.1:c.*2148G>A | ENSP00000494567.1:n.*2148G>A | |
| ENST00000644757.1:c.*2261G>A | ENSP00000495085.1:n.*2261G>A | |
| ENST00000644772.1:c.4042G>A | ENSP00000494321.1:p.Glu1348Lys | |
| ENST00000645004.1:n.1485G>A | ||
| ENST00000645076.1:c.3175G>A | ||
| ENST00000645417.1:c.1164G>A | ||
| ENST00000645744.1:c.*2610G>A | ENSP00000494564.1:n.*2610G>A | |
| ENST00000645760.1:c.4251G>A | ||
| ENST00000645884.1:c.*1113G>A | ENSP00000495516.1:n.*1113G>A | |
| ENST00000646003.1:c.*1932G>A | ENSP00000495259.1:n.*1932G>A | |
| ENST00000646207.1:c.*2813G>A | ENSP00000495025.1:n.*2813G>A | |
| ENST00000646276.1:c.*2249G>A | ENSP00000496070.1:n.*2249G>A | |
| ENST00000646592.1:c.3282G>A | ||
| ENST00000646902.1:c.3973G>A | ENSP00000494101.1:p.Glu1325Lys | |
| ENST00000646993.1:c.*2372G>A | ENSP00000493720.1:n.*2372G>A | |
| ENST00000647013.1:c.3982G>A | ENSP00000496741.1:n.3982G>A | |
| ENST00000647015.1:c.3727G>A | ENSP00000495389.1:p.Glu1243Lys | |
| ENST00000647086.1:c.*3592G>A | ENSP00000493677.1:n.*3592G>A | |
| ENST00000647158.1:c.*2117G>A | ENSP00000495744.1:n.*2117G>A | |
| ENST00000302539.8:c.3979G>A | ENSP00000303960.4:p.Glu1327Lys | |
| ENST00000389817.7:c.3976G>A | ENSP00000374467.3:p.Glu1326Lys | |
| ENST00000527905.5:c.*852G>A | ENSP00000431653.1:n.*852G>A | |
| ENST00000528374.1:c.446G>A | ||
| ENST00000531137.1:n.395G>A | ||
| ENST00000531891.1:c.344G>A | ||
| ENST00000532220.1:n.304G>A | ||
| NM_000352.4:c.3976G>A | NP_000343.2:p.Glu1326Lys | |
| NM_001287174.1:c.3979G>A | NP_001274103.1:p.Glu1327Lys | |
| XM_011520331.1:c.3976G>A | XP_011518633.1:p.Glu1326Lys | |
| XM_011520332.1:c.3979G>A | XP_011518634.1:p.Glu1327Lys | |
| XM_011520333.1:c.2476G>A | XP_011518635.1:p.Glu826Lys | |
| XR_930890.1:n.4042G>A | ||
| NM_001351295.1:c.4042G>A | NP_001338224.1:p.Glu1348Lys | |
| NM_001351296.1:c.3976G>A | NP_001338225.1:p.Glu1326Lys | |
| NM_001351297.1:c.3973G>A | NP_001338226.1:p.Glu1325Lys | |
| NR_147094.1:n.4125G>A | ||
| XM_017018197.2:c.4045G>A | XP_016873686.1:p.Glu1349Lys | |
| XM_017018199.1:c.4042G>A | XP_016873688.1:p.Glu1348Lys | |
| XM_017018201.2:c.4045G>A | XP_016873690.1:p.Glu1349Lys | |
| XM_017018202.1:c.2542G>A | XP_016873691.1:p.Glu848Lys | |
| XM_017018204.1:c.1933G>A | XP_016873693.1:p.Glu645Lys | |
| XM_024448668.1:c.2344G>A | XP_024304436.1:p.Glu782Lys | |
| XR_001747945.2:n.4117G>A | ||
| XR_001747946.2:n.4048G>A | ||
| XR_002957189.1:n.4567G>A | ||
| NM_000352.6:c.3976G>A MANE Select | NP_000343.2:p.Glu1326Lys | |
| NM_001287174.2:c.3979G>A | NP_001274103.1:p.Glu1327Lys | |
| NM_001351295.2:c.4042G>A | NP_001338224.1:p.Glu1348Lys | |
| NM_001351296.2:c.3976G>A | NP_001338225.1:p.Glu1326Lys | |
| NM_001351297.2:c.3973G>A | NP_001338226.1:p.Glu1325Lys | |
| NR_147094.2:n.4125G>A | ||
| NM_001287174.3:c.3979G>A | NP_001274103.1:p.Glu1327Lys |