Linked Data
ClinVar Variation Id:
1338249
dbSNP Id:
rs748233295
ExAC:
11:17417450 C / T
gnomAD v2:
11-17417450-C-T
gnomAD v3:
11-17395903-C-T
gnomAD v4:
11-17395903-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395903C>T , CM000673.2:g.17395903C>T | GRCh38 |
| NC_000011.9:g.17417450C>T , CM000673.1:g.17417450C>T | GRCh37 |
| NC_000011.8:g.17374026C>T | NCBI36 |
| NG_008867.1:g.86000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3748G>A | ||
| ENST00000528374.2:c.738G>A | ||
| ENST00000529967.6:n.2486G>A | ||
| ENST00000532220.2:n.3380G>A | ||
| ENST00000642611.2:n.5347G>A | ||
| ENST00000644057.2:n.590G>A | ||
| ENST00000645004.2:n.1646G>A | ||
| ENST00000682051.1:n.4309G>A | ||
| ENST00000682110.1:n.4362G>A | ||
| ENST00000682140.1:c.4013G>A | ENSP00000507829.1:p.Trp1338Ter | |
| ENST00000682185.1:n.5452G>A | ||
| ENST00000682204.1:c.*2285G>A | ENSP00000507094.1:n.*2285G>A | |
| ENST00000682215.1:n.4729G>A | ||
| ENST00000682288.1:c.*2578G>A | ENSP00000507506.1:n.*2578G>A | |
| ENST00000682442.1:n.4582G>A | ||
| ENST00000682528.1:n.4439G>A | ||
| ENST00000682673.1:n.4306G>A | ||
| ENST00000682805.1:n.4767G>A | ||
| ENST00000682965.1:c.*569G>A | ENSP00000508229.1:n.*569G>A | |
| ENST00000683093.1:n.5446G>A | ||
| ENST00000683136.1:c.4030G>A | ENSP00000507768.1:p.Gly1344Arg | |
| ENST00000683153.1:n.4404G>A | ||
| ENST00000683365.1:n.4464G>A | ||
| ENST00000683377.1:n.4362G>A | ||
| ENST00000683456.1:c.*1284G>A | ENSP00000508318.1:n.*1284G>A | |
| ENST00000683522.1:n.4362G>A | ||
| ENST00000683562.1:c.*2316G>A | ENSP00000508265.1:n.*2316G>A | |
| ENST00000683693.1:n.5794G>A | ||
| ENST00000683725.1:c.4147G>A | ENSP00000507496.1:p.Gly1383Arg | |
| ENST00000684010.1:n.4357G>A | ||
| ENST00000684157.1:n.5347G>A | ||
| ENST00000684253.1:n.4265G>A | ||
| ENST00000684288.1:c.*2319G>A | ENSP00000507143.1:n.*2319G>A | |
| ENST00000684313.1:n.3794G>A | ||
| ENST00000684332.1:n.4435G>A | ||
| ENST00000684371.1:n.4468G>A | ||
| ENST00000684404.1:n.5390G>A | ||
| ENST00000684442.1:n.4586G>A | ||
| ENST00000684555.1:c.*2359G>A | ENSP00000507705.1:n.*2359G>A | |
| ENST00000684571.1:c.3988G>A | ENSP00000506935.1:p.Gly1330Arg | |
| ENST00000684593.1:c.*3852G>A | ENSP00000507005.1:n.*3852G>A | |
| ENST00000684711.1:c.*2543G>A | ENSP00000506841.1:n.*2543G>A | |
| ENST00000302539.9:c.4150G>A | ENSP00000303960.4:p.Gly1384Arg | |
| ENST00000389817.8:c.4147G>A MANE Select | ENSP00000374467.4:p.Gly1383Arg | |
| ENST00000642271.1:c.4144G>A | ENSP00000493749.1:p.Gly1382Arg | |
| ENST00000642579.1:c.2201G>A | ||
| ENST00000642611.1:n.5232G>A | ||
| ENST00000642902.1:c.3929G>A | ||
| ENST00000643260.1:c.4147G>A | ENSP00000494450.1:p.Gly1383Arg | |
| ENST00000643562.1:c.*2269G>A | ENSP00000496124.1:n.*2269G>A | |
| ENST00000643925.1:c.2787G>A | ||
| ENST00000644057.1:n.224G>A | ||
| ENST00000644484.1:c.*3533G>A | ENSP00000493558.1:n.*3533G>A | |
| ENST00000644675.1:c.*2319G>A | ENSP00000494567.1:n.*2319G>A | |
| ENST00000644757.1:c.*3202+361G>A | ENSP00000495085.1:n.*3202+361G>A | |
| ENST00000644772.1:c.4213G>A | ENSP00000494321.1:p.Gly1405Arg | |
| ENST00000645004.1:n.1840G>A | ||
| ENST00000645076.1:c.3346G>A | ||
| ENST00000645417.1:c.1335G>A | ||
| ENST00000645744.1:c.*3912G>A | ENSP00000494564.1:n.*3912G>A | |
| ENST00000645760.1:c.4568G>A | ||
| ENST00000645884.1:c.*1430G>A | ENSP00000495516.1:n.*1430G>A | |
| ENST00000646003.1:c.*2249G>A | ENSP00000495259.1:n.*2249G>A | |
| ENST00000646207.1:c.*2984G>A | ENSP00000495025.1:n.*2984G>A | |
| ENST00000646276.1:c.*3551G>A | ENSP00000496070.1:n.*3551G>A | |
| ENST00000646592.1:c.3453G>A | ||
| ENST00000646902.1:c.4114G>A | ENSP00000494101.1:p.Gly1372Arg | |
| ENST00000646993.1:c.*2689G>A | ENSP00000493720.1:n.*2689G>A | |
| ENST00000647013.1:c.4153G>A | ENSP00000496741.1:n.4153G>A | |
| ENST00000647015.1:c.3898G>A | ENSP00000495389.1:p.Gly1300Arg | |
| ENST00000647086.1:c.*3733G>A | ENSP00000493677.1:n.*3733G>A | |
| ENST00000647158.1:c.*2434G>A | ENSP00000495744.1:n.*2434G>A | |
| ENST00000302539.8:c.4150G>A | ENSP00000303960.4:p.Gly1384Arg | |
| ENST00000389817.7:c.4147G>A | ENSP00000374467.3:p.Gly1383Arg | |
| ENST00000525022.1:n.13G>A | ||
| ENST00000526168.5:c.15G>A | ||
| NM_000352.4:c.4147G>A | NP_000343.2:p.Gly1383Arg | |
| NM_001287174.1:c.4150G>A | NP_001274103.1:p.Gly1384Arg | |
| XM_011520331.1:c.4147G>A | XP_011518633.1:p.Gly1383Arg | |
| XM_011520332.1:c.4150G>A | XP_011518634.1:p.Gly1384Arg | |
| XM_011520333.1:c.2647G>A | XP_011518635.1:p.Gly883Arg | |
| XR_930890.1:n.4213G>A | ||
| NM_001351295.1:c.4213G>A | NP_001338224.1:p.Gly1405Arg | |
| NM_001351296.1:c.4147G>A | NP_001338225.1:p.Gly1383Arg | |
| NM_001351297.1:c.4144G>A | NP_001338226.1:p.Gly1382Arg | |
| NR_147094.1:n.4442G>A | ||
| XM_017018197.2:c.4216G>A | XP_016873686.1:p.Gly1406Arg | |
| XM_017018199.1:c.4213G>A | XP_016873688.1:p.Gly1405Arg | |
| XM_017018201.2:c.4216G>A | XP_016873690.1:p.Gly1406Arg | |
| XM_017018202.1:c.2713G>A | XP_016873691.1:p.Gly905Arg | |
| XM_017018204.1:c.2104G>A | XP_016873693.1:p.Gly702Arg | |
| XM_024448668.1:c.2515G>A | XP_024304436.1:p.Gly839Arg | |
| XR_001747945.2:n.4288G>A | ||
| XR_001747946.2:n.4219G>A | ||
| XR_002957189.1:n.5869G>A | ||
| NM_000352.6:c.4147G>A MANE Select | NP_000343.2:p.Gly1383Arg | |
| NM_001287174.2:c.4150G>A | NP_001274103.1:p.Gly1384Arg | |
| NM_001351295.2:c.4213G>A | NP_001338224.1:p.Gly1405Arg | |
| NM_001351296.2:c.4147G>A | NP_001338225.1:p.Gly1383Arg | |
| NM_001351297.2:c.4144G>A | NP_001338226.1:p.Gly1382Arg | |
| NR_147094.2:n.4442G>A | ||
| NM_001287174.3:c.4150G>A | NP_001274103.1:p.Gly1384Arg |