Linked Data
ClinVar Variation Id:
35616
dbSNP Id:
rs137852676
ExAC:
11:17417399 C / T
gnomAD v2:
11-17417399-C-T
gnomAD v3:
11-17395852-C-T
gnomAD v4:
11-17395852-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395852C>T , CM000673.2:g.17395852C>T | GRCh38 |
| NC_000011.9:g.17417399C>T , CM000673.1:g.17417399C>T | GRCh37 |
| NC_000011.8:g.17373975C>T | NCBI36 |
| NG_008867.1:g.86051G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3799G>A | ||
| ENST00000528374.2:c.789G>A | ||
| ENST00000529967.6:n.2537G>A | ||
| ENST00000532220.2:n.3431G>A | ||
| ENST00000642611.2:n.5398G>A | ||
| ENST00000644057.2:n.641G>A | ||
| ENST00000645004.2:n.1697G>A | ||
| ENST00000682051.1:n.4360G>A | ||
| ENST00000682110.1:n.4413G>A | ||
| ENST00000682140.1:c.4064G>A | ENSP00000507829.1:p.Arg1355Lys | |
| ENST00000682185.1:n.5503G>A | ||
| ENST00000682204.1:c.*2336G>A | ENSP00000507094.1:n.*2336G>A | |
| ENST00000682215.1:n.4780G>A | ||
| ENST00000682288.1:c.*2629G>A | ENSP00000507506.1:n.*2629G>A | |
| ENST00000682442.1:n.4633G>A | ||
| ENST00000682528.1:n.4490G>A | ||
| ENST00000682673.1:n.4357G>A | ||
| ENST00000682805.1:n.4818G>A | ||
| ENST00000682965.1:c.*620G>A | ENSP00000508229.1:n.*620G>A | |
| ENST00000683093.1:n.5497G>A | ||
| ENST00000683136.1:c.4081G>A | ENSP00000507768.1:p.Gly1361Arg | |
| ENST00000683153.1:n.4455G>A | ||
| ENST00000683365.1:n.4515G>A | ||
| ENST00000683377.1:n.4413G>A | ||
| ENST00000683456.1:c.*1335G>A | ENSP00000508318.1:n.*1335G>A | |
| ENST00000683522.1:n.4413G>A | ||
| ENST00000683562.1:c.*2367G>A | ENSP00000508265.1:n.*2367G>A | |
| ENST00000683693.1:n.5845G>A | ||
| ENST00000683725.1:c.4198G>A | ENSP00000507496.1:p.Gly1400Arg | |
| ENST00000684010.1:n.4408G>A | ||
| ENST00000684157.1:n.5398G>A | ||
| ENST00000684253.1:n.4316G>A | ||
| ENST00000684288.1:c.*2370G>A | ENSP00000507143.1:n.*2370G>A | |
| ENST00000684313.1:n.3845G>A | ||
| ENST00000684332.1:n.4486G>A | ||
| ENST00000684371.1:n.4519G>A | ||
| ENST00000684404.1:n.5441G>A | ||
| ENST00000684442.1:n.4637G>A | ||
| ENST00000684555.1:c.*2410G>A | ENSP00000507705.1:n.*2410G>A | |
| ENST00000684571.1:c.4039G>A | ENSP00000506935.1:p.Gly1347Arg | |
| ENST00000684593.1:c.*3903G>A | ENSP00000507005.1:n.*3903G>A | |
| ENST00000684711.1:c.*2594G>A | ENSP00000506841.1:n.*2594G>A | |
| ENST00000302539.9:c.4201G>A | ENSP00000303960.4:p.Gly1401Arg | |
| ENST00000389817.8:c.4198G>A MANE Select | ENSP00000374467.4:p.Gly1400Arg | |
| ENST00000642271.1:c.4195G>A | ENSP00000493749.1:p.Gly1399Arg | |
| ENST00000642579.1:c.2252G>A | ||
| ENST00000642611.1:n.5283G>A | ||
| ENST00000642902.1:c.3980G>A | ||
| ENST00000643260.1:c.4198G>A | ENSP00000494450.1:p.Gly1400Arg | |
| ENST00000643562.1:c.*2320G>A | ENSP00000496124.1:n.*2320G>A | |
| ENST00000643925.1:c.2838G>A | ||
| ENST00000644057.1:n.275G>A | ||
| ENST00000644484.1:c.*3584G>A | ENSP00000493558.1:n.*3584G>A | |
| ENST00000644675.1:c.*2370G>A | ENSP00000494567.1:n.*2370G>A | |
| ENST00000644757.1:c.*3202+412G>A | ENSP00000495085.1:n.*3202+412G>A | |
| ENST00000644772.1:c.4264G>A | ENSP00000494321.1:p.Gly1422Arg | |
| ENST00000645004.1:n.1891G>A | ||
| ENST00000645076.1:c.3397G>A | ||
| ENST00000645417.1:c.1386G>A | ||
| ENST00000645744.1:c.*3963G>A | ENSP00000494564.1:n.*3963G>A | |
| ENST00000645760.1:c.4619G>A | ||
| ENST00000645884.1:c.*1481G>A | ENSP00000495516.1:n.*1481G>A | |
| ENST00000646003.1:c.*2300G>A | ENSP00000495259.1:n.*2300G>A | |
| ENST00000646207.1:c.*3035G>A | ENSP00000495025.1:n.*3035G>A | |
| ENST00000646276.1:c.*3602G>A | ENSP00000496070.1:n.*3602G>A | |
| ENST00000646592.1:c.3504G>A | ||
| ENST00000646902.1:c.4165G>A | ENSP00000494101.1:p.Gly1389Arg | |
| ENST00000646993.1:c.*2740G>A | ENSP00000493720.1:n.*2740G>A | |
| ENST00000647013.1:c.4204G>A | ENSP00000496741.1:n.4204G>A | |
| ENST00000647015.1:c.3949G>A | ENSP00000495389.1:p.Gly1317Arg | |
| ENST00000647086.1:c.*3784G>A | ENSP00000493677.1:n.*3784G>A | |
| ENST00000647158.1:c.*2485G>A | ENSP00000495744.1:n.*2485G>A | |
| ENST00000302539.8:c.4201G>A | ENSP00000303960.4:p.Gly1401Arg | |
| ENST00000389817.7:c.4198G>A | ENSP00000374467.3:p.Gly1400Arg | |
| ENST00000525022.1:n.64G>A | ||
| ENST00000526168.5:c.66G>A | ||
| ENST00000531642.5:c.34G>A | ||
| NM_000352.4:c.4198G>A | NP_000343.2:p.Gly1400Arg | |
| NM_001287174.1:c.4201G>A | NP_001274103.1:p.Gly1401Arg | |
| XM_011520331.1:c.4198G>A | XP_011518633.1:p.Gly1400Arg | |
| XM_011520332.1:c.4201G>A | XP_011518634.1:p.Gly1401Arg | |
| XM_011520333.1:c.2698G>A | XP_011518635.1:p.Gly900Arg | |
| XR_930890.1:n.4264G>A | ||
| NM_001351295.1:c.4264G>A | NP_001338224.1:p.Gly1422Arg | |
| NM_001351296.1:c.4198G>A | NP_001338225.1:p.Gly1400Arg | |
| NM_001351297.1:c.4195G>A | NP_001338226.1:p.Gly1399Arg | |
| NR_147094.1:n.4493G>A | ||
| XM_017018197.2:c.4267G>A | XP_016873686.1:p.Gly1423Arg | |
| XM_017018199.1:c.4264G>A | XP_016873688.1:p.Gly1422Arg | |
| XM_017018201.2:c.4267G>A | XP_016873690.1:p.Gly1423Arg | |
| XM_017018202.1:c.2764G>A | XP_016873691.1:p.Gly922Arg | |
| XM_017018204.1:c.2155G>A | XP_016873693.1:p.Gly719Arg | |
| XM_024448668.1:c.2566G>A | XP_024304436.1:p.Gly856Arg | |
| XR_001747945.2:n.4339G>A | ||
| XR_001747946.2:n.4270G>A | ||
| XR_002957189.1:n.5920G>A | ||
| NM_000352.6:c.4198G>A MANE Select | NP_000343.2:p.Gly1400Arg | |
| NM_001287174.2:c.4201G>A | NP_001274103.1:p.Gly1401Arg | |
| NM_001351295.2:c.4264G>A | NP_001338224.1:p.Gly1422Arg | |
| NM_001351296.2:c.4198G>A | NP_001338225.1:p.Gly1400Arg | |
| NM_001351297.2:c.4195G>A | NP_001338226.1:p.Gly1399Arg | |
| NR_147094.2:n.4493G>A | ||
| NM_001287174.3:c.4201G>A | NP_001274103.1:p.Gly1401Arg |