Linked Data
ClinVar Variation Id:
1089284
ClinVar RCV Id:
RCV001408049
dbSNP Id:
rs574684578
ExAC:
11:17417457 G / C
gnomAD v2:
11-17417457-G-C
gnomAD v3:
11-17395910-G-C
gnomAD v4:
11-17395910-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395910G>C , CM000673.2:g.17395910G>C | GRCh38 |
| NC_000011.9:g.17417457G>C , CM000673.1:g.17417457G>C | GRCh37 |
| NC_000011.8:g.17374033G>C | NCBI36 |
| NG_008867.1:g.85993C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3741C>G | ||
| ENST00000528374.2:c.731C>G | ||
| ENST00000529967.6:n.2479C>G | ||
| ENST00000532220.2:n.3373C>G | ||
| ENST00000642611.2:n.5340C>G | ||
| ENST00000644057.2:n.583C>G | ||
| ENST00000645004.2:n.1639C>G | ||
| ENST00000682051.1:n.4302C>G | ||
| ENST00000682110.1:n.4355C>G | ||
| ENST00000682140.1:c.4006C>G | ENSP00000507829.1:p.Arg1336Gly | |
| ENST00000682185.1:n.5445C>G | ||
| ENST00000682204.1:c.*2278C>G | ENSP00000507094.1:n.*2278C>G | |
| ENST00000682215.1:n.4722C>G | ||
| ENST00000682288.1:c.*2571C>G | ENSP00000507506.1:n.*2571C>G | |
| ENST00000682442.1:n.4575C>G | ||
| ENST00000682528.1:n.4432C>G | ||
| ENST00000682673.1:n.4299C>G | ||
| ENST00000682805.1:n.4760C>G | ||
| ENST00000682965.1:c.*562C>G | ENSP00000508229.1:n.*562C>G | |
| ENST00000683093.1:n.5439C>G | ||
| ENST00000683136.1:c.4023C>G | ENSP00000507768.1:p.Thr1341= | |
| ENST00000683153.1:n.4397C>G | ||
| ENST00000683365.1:n.4457C>G | ||
| ENST00000683377.1:n.4355C>G | ||
| ENST00000683456.1:c.*1277C>G | ENSP00000508318.1:n.*1277C>G | |
| ENST00000683522.1:n.4355C>G | ||
| ENST00000683562.1:c.*2309C>G | ENSP00000508265.1:n.*2309C>G | |
| ENST00000683693.1:n.5787C>G | ||
| ENST00000683725.1:c.4140C>G | ENSP00000507496.1:p.Thr1380= | |
| ENST00000684010.1:n.4350C>G | ||
| ENST00000684157.1:n.5340C>G | ||
| ENST00000684253.1:n.4258C>G | ||
| ENST00000684288.1:c.*2312C>G | ENSP00000507143.1:n.*2312C>G | |
| ENST00000684313.1:n.3787C>G | ||
| ENST00000684332.1:n.4428C>G | ||
| ENST00000684371.1:n.4461C>G | ||
| ENST00000684404.1:n.5383C>G | ||
| ENST00000684442.1:n.4579C>G | ||
| ENST00000684555.1:c.*2352C>G | ENSP00000507705.1:n.*2352C>G | |
| ENST00000684571.1:c.3981C>G | ENSP00000506935.1:p.Thr1327= | |
| ENST00000684593.1:c.*3845C>G | ENSP00000507005.1:n.*3845C>G | |
| ENST00000684711.1:c.*2536C>G | ENSP00000506841.1:n.*2536C>G | |
| ENST00000302539.9:c.4143C>G | ENSP00000303960.4:p.Thr1381= | |
| ENST00000389817.8:c.4140C>G MANE Select | ENSP00000374467.4:p.Thr1380= | |
| ENST00000642271.1:c.4137C>G | ENSP00000493749.1:p.Thr1379= | |
| ENST00000642579.1:c.2194C>G | ||
| ENST00000642611.1:n.5225C>G | ||
| ENST00000642902.1:c.3922C>G | ||
| ENST00000643260.1:c.4140C>G | ENSP00000494450.1:p.Thr1380= | |
| ENST00000643562.1:c.*2262C>G | ENSP00000496124.1:n.*2262C>G | |
| ENST00000643925.1:c.2780C>G | ||
| ENST00000644057.1:n.217C>G | ||
| ENST00000644484.1:c.*3526C>G | ENSP00000493558.1:n.*3526C>G | |
| ENST00000644675.1:c.*2312C>G | ENSP00000494567.1:n.*2312C>G | |
| ENST00000644757.1:c.*3202+354C>G | ENSP00000495085.1:n.*3202+354C>G | |
| ENST00000644772.1:c.4206C>G | ENSP00000494321.1:p.Thr1402= | |
| ENST00000645004.1:n.1833C>G | ||
| ENST00000645076.1:c.3339C>G | ||
| ENST00000645417.1:c.1328C>G | ||
| ENST00000645744.1:c.*3905C>G | ENSP00000494564.1:n.*3905C>G | |
| ENST00000645760.1:c.4561C>G | ||
| ENST00000645884.1:c.*1423C>G | ENSP00000495516.1:n.*1423C>G | |
| ENST00000646003.1:c.*2242C>G | ENSP00000495259.1:n.*2242C>G | |
| ENST00000646207.1:c.*2977C>G | ENSP00000495025.1:n.*2977C>G | |
| ENST00000646276.1:c.*3544C>G | ENSP00000496070.1:n.*3544C>G | |
| ENST00000646592.1:c.3446C>G | ||
| ENST00000646902.1:c.4107C>G | ENSP00000494101.1:p.Thr1369= | |
| ENST00000646993.1:c.*2682C>G | ENSP00000493720.1:n.*2682C>G | |
| ENST00000647013.1:c.4146C>G | ENSP00000496741.1:n.4146C>G | |
| ENST00000647015.1:c.3891C>G | ENSP00000495389.1:p.Thr1297= | |
| ENST00000647086.1:c.*3726C>G | ENSP00000493677.1:n.*3726C>G | |
| ENST00000647158.1:c.*2427C>G | ENSP00000495744.1:n.*2427C>G | |
| ENST00000302539.8:c.4143C>G | ENSP00000303960.4:p.Thr1381= | |
| ENST00000389817.7:c.4140C>G | ENSP00000374467.3:p.Thr1380= | |
| ENST00000525022.1:n.6C>G | ||
| ENST00000526168.5:c.8C>G | ||
| NM_000352.4:c.4140C>G | NP_000343.2:p.Thr1380= | |
| NM_001287174.1:c.4143C>G | NP_001274103.1:p.Thr1381= | |
| XM_011520331.1:c.4140C>G | XP_011518633.1:p.Thr1380= | |
| XM_011520332.1:c.4143C>G | XP_011518634.1:p.Thr1381= | |
| XM_011520333.1:c.2640C>G | XP_011518635.1:p.Thr880= | |
| XR_930890.1:n.4206C>G | ||
| NM_001351295.1:c.4206C>G | NP_001338224.1:p.Thr1402= | |
| NM_001351296.1:c.4140C>G | NP_001338225.1:p.Thr1380= | |
| NM_001351297.1:c.4137C>G | NP_001338226.1:p.Thr1379= | |
| NR_147094.1:n.4435C>G | ||
| XM_017018197.2:c.4209C>G | XP_016873686.1:p.Thr1403= | |
| XM_017018199.1:c.4206C>G | XP_016873688.1:p.Thr1402= | |
| XM_017018201.2:c.4209C>G | XP_016873690.1:p.Thr1403= | |
| XM_017018202.1:c.2706C>G | XP_016873691.1:p.Thr902= | |
| XM_017018204.1:c.2097C>G | XP_016873693.1:p.Thr699= | |
| XM_024448668.1:c.2508C>G | XP_024304436.1:p.Thr836= | |
| XR_001747945.2:n.4281C>G | ||
| XR_001747946.2:n.4212C>G | ||
| XR_002957189.1:n.5862C>G | ||
| NM_000352.6:c.4140C>G MANE Select | NP_000343.2:p.Thr1380= | |
| NM_001287174.2:c.4143C>G | NP_001274103.1:p.Thr1381= | |
| NM_001351295.2:c.4206C>G | NP_001338224.1:p.Thr1402= | |
| NM_001351296.2:c.4140C>G | NP_001338225.1:p.Thr1380= | |
| NM_001351297.2:c.4137C>G | NP_001338226.1:p.Thr1379= | |
| NR_147094.2:n.4435C>G | ||
| NM_001287174.3:c.4143C>G | NP_001274103.1:p.Thr1381= |