Linked Data
ClinVar Variation Id:
1338261
ClinVar RCV Id:
RCV001817632
dbSNP Id:
rs925231098
gnomAD v4:
11-17395918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395918C>T , CM000673.2:g.17395918C>T | GRCh38 |
| NC_000011.9:g.17417465C>T , CM000673.1:g.17417465C>T | GRCh37 |
| NC_000011.8:g.17374041C>T | NCBI36 |
| NG_008867.1:g.85985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3733G>A | ||
| ENST00000528374.2:c.723G>A | ||
| ENST00000529967.6:n.2471G>A | ||
| ENST00000532220.2:n.3365G>A | ||
| ENST00000642611.2:n.5332G>A | ||
| ENST00000644057.2:n.575G>A | ||
| ENST00000645004.2:n.1631G>A | ||
| ENST00000682051.1:n.4294G>A | ||
| ENST00000682110.1:n.4347G>A | ||
| ENST00000682140.1:c.3998G>A | ENSP00000507829.1:p.Arg1333Gln | |
| ENST00000682185.1:n.5437G>A | ||
| ENST00000682204.1:c.*2270G>A | ENSP00000507094.1:n.*2270G>A | |
| ENST00000682215.1:n.4714G>A | ||
| ENST00000682288.1:c.*2563G>A | ENSP00000507506.1:n.*2563G>A | |
| ENST00000682442.1:n.4567G>A | ||
| ENST00000682528.1:n.4424G>A | ||
| ENST00000682673.1:n.4291G>A | ||
| ENST00000682805.1:n.4752G>A | ||
| ENST00000682965.1:c.*554G>A | ENSP00000508229.1:n.*554G>A | |
| ENST00000683093.1:n.5431G>A | ||
| ENST00000683136.1:c.4015G>A | ENSP00000507768.1:p.Gly1339Ser | |
| ENST00000683153.1:n.4389G>A | ||
| ENST00000683365.1:n.4449G>A | ||
| ENST00000683377.1:n.4347G>A | ||
| ENST00000683456.1:c.*1269G>A | ENSP00000508318.1:n.*1269G>A | |
| ENST00000683522.1:n.4347G>A | ||
| ENST00000683562.1:c.*2301G>A | ENSP00000508265.1:n.*2301G>A | |
| ENST00000683693.1:n.5779G>A | ||
| ENST00000683725.1:c.4132G>A | ENSP00000507496.1:p.Gly1378Ser | |
| ENST00000684010.1:n.4342G>A | ||
| ENST00000684157.1:n.5332G>A | ||
| ENST00000684253.1:n.4250G>A | ||
| ENST00000684288.1:c.*2304G>A | ENSP00000507143.1:n.*2304G>A | |
| ENST00000684313.1:n.3779G>A | ||
| ENST00000684332.1:n.4420G>A | ||
| ENST00000684371.1:n.4453G>A | ||
| ENST00000684404.1:n.5375G>A | ||
| ENST00000684442.1:n.4571G>A | ||
| ENST00000684555.1:c.*2344G>A | ENSP00000507705.1:n.*2344G>A | |
| ENST00000684571.1:c.3973G>A | ENSP00000506935.1:p.Gly1325Ser | |
| ENST00000684593.1:c.*3837G>A | ENSP00000507005.1:n.*3837G>A | |
| ENST00000684711.1:c.*2528G>A | ENSP00000506841.1:n.*2528G>A | |
| ENST00000302539.9:c.4135G>A | ENSP00000303960.4:p.Gly1379Ser | |
| ENST00000389817.8:c.4132G>A MANE Select | ENSP00000374467.4:p.Gly1378Ser | |
| ENST00000642271.1:c.4129G>A | ENSP00000493749.1:p.Gly1377Ser | |
| ENST00000642579.1:c.2186G>A | ||
| ENST00000642611.1:n.5217G>A | ||
| ENST00000642902.1:c.3914G>A | ||
| ENST00000643260.1:c.4132G>A | ENSP00000494450.1:p.Gly1378Ser | |
| ENST00000643562.1:c.*2254G>A | ENSP00000496124.1:n.*2254G>A | |
| ENST00000643925.1:c.2772G>A | ||
| ENST00000644057.1:n.209G>A | ||
| ENST00000644484.1:c.*3518G>A | ENSP00000493558.1:n.*3518G>A | |
| ENST00000644675.1:c.*2304G>A | ENSP00000494567.1:n.*2304G>A | |
| ENST00000644757.1:c.*3202+346G>A | ENSP00000495085.1:n.*3202+346G>A | |
| ENST00000644772.1:c.4198G>A | ENSP00000494321.1:p.Gly1400Ser | |
| ENST00000645004.1:n.1825G>A | ||
| ENST00000645076.1:c.3331G>A | ||
| ENST00000645417.1:c.1320G>A | ||
| ENST00000645744.1:c.*3897G>A | ENSP00000494564.1:n.*3897G>A | |
| ENST00000645760.1:c.4553G>A | ||
| ENST00000645884.1:c.*1415G>A | ENSP00000495516.1:n.*1415G>A | |
| ENST00000646003.1:c.*2234G>A | ENSP00000495259.1:n.*2234G>A | |
| ENST00000646207.1:c.*2969G>A | ENSP00000495025.1:n.*2969G>A | |
| ENST00000646276.1:c.*3536G>A | ENSP00000496070.1:n.*3536G>A | |
| ENST00000646592.1:c.3438G>A | ||
| ENST00000646902.1:c.4099G>A | ENSP00000494101.1:p.Gly1367Ser | |
| ENST00000646993.1:c.*2674G>A | ENSP00000493720.1:n.*2674G>A | |
| ENST00000647013.1:c.4138G>A | ENSP00000496741.1:n.4138G>A | |
| ENST00000647015.1:c.3883G>A | ENSP00000495389.1:p.Gly1295Ser | |
| ENST00000647086.1:c.*3718G>A | ENSP00000493677.1:n.*3718G>A | |
| ENST00000647158.1:c.*2419G>A | ENSP00000495744.1:n.*2419G>A | |
| ENST00000302539.8:c.4135G>A | ENSP00000303960.4:p.Gly1379Ser | |
| ENST00000389817.7:c.4132G>A | ENSP00000374467.3:p.Gly1378Ser | |
| ENST00000532220.1:n.606G>A | ||
| NM_000352.4:c.4132G>A | NP_000343.2:p.Gly1378Ser | |
| NM_001287174.1:c.4135G>A | NP_001274103.1:p.Gly1379Ser | |
| XM_011520331.1:c.4132G>A | XP_011518633.1:p.Gly1378Ser | |
| XM_011520332.1:c.4135G>A | XP_011518634.1:p.Gly1379Ser | |
| XM_011520333.1:c.2632G>A | XP_011518635.1:p.Gly878Ser | |
| XR_930890.1:n.4198G>A | ||
| NM_001351295.1:c.4198G>A | NP_001338224.1:p.Gly1400Ser | |
| NM_001351296.1:c.4132G>A | NP_001338225.1:p.Gly1378Ser | |
| NM_001351297.1:c.4129G>A | NP_001338226.1:p.Gly1377Ser | |
| NR_147094.1:n.4427G>A | ||
| XM_017018197.2:c.4201G>A | XP_016873686.1:p.Gly1401Ser | |
| XM_017018199.1:c.4198G>A | XP_016873688.1:p.Gly1400Ser | |
| XM_017018201.2:c.4201G>A | XP_016873690.1:p.Gly1401Ser | |
| XM_017018202.1:c.2698G>A | XP_016873691.1:p.Gly900Ser | |
| XM_017018204.1:c.2089G>A | XP_016873693.1:p.Gly697Ser | |
| XM_024448668.1:c.2500G>A | XP_024304436.1:p.Gly834Ser | |
| XR_001747945.2:n.4273G>A | ||
| XR_001747946.2:n.4204G>A | ||
| XR_002957189.1:n.5854G>A | ||
| NM_000352.6:c.4132G>A MANE Select | NP_000343.2:p.Gly1378Ser | |
| NM_001287174.2:c.4135G>A | NP_001274103.1:p.Gly1379Ser | |
| NM_001351295.2:c.4198G>A | NP_001338224.1:p.Gly1400Ser | |
| NM_001351296.2:c.4132G>A | NP_001338225.1:p.Gly1378Ser | |
| NM_001351297.2:c.4129G>A | NP_001338226.1:p.Gly1377Ser | |
| NR_147094.2:n.4427G>A | ||
| NM_001287174.3:c.4135G>A | NP_001274103.1:p.Gly1379Ser |