Linked Data
ClinVar Variation Id:
551087
dbSNP Id:
rs67767715
ExAC:
11:17418574 C / G
gnomAD v2:
11-17418574-C-G
gnomAD v3:
11-17397027-C-G
gnomAD v4:
11-17397027-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397027C>G , CM000673.2:g.17397027C>G | GRCh38 |
| NC_000011.9:g.17418574C>G , CM000673.1:g.17418574C>G | GRCh37 |
| NC_000011.8:g.17375150C>G | NCBI36 |
| NG_008867.1:g.84876G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3609G>C | ||
| ENST00000528374.2:c.599G>C | ||
| ENST00000529967.6:n.2347G>C | ||
| ENST00000532220.2:n.2256G>C | ||
| ENST00000642611.2:n.4223G>C | ||
| ENST00000644057.2:n.451G>C | ||
| ENST00000645004.2:n.1507G>C | ||
| ENST00000682051.1:n.4170G>C | ||
| ENST00000682110.1:n.4223G>C | ||
| ENST00000682140.1:c.3985+166G>C | ENSP00000507829.1:n.3985+166G>C | |
| ENST00000682185.1:n.5313G>C | ||
| ENST00000682204.1:c.*2146G>C | ENSP00000507094.1:n.*2146G>C | |
| ENST00000682215.1:n.4590G>C | ||
| ENST00000682288.1:c.*2439G>C | ENSP00000507506.1:n.*2439G>C | |
| ENST00000682442.1:n.4443G>C | ||
| ENST00000682528.1:n.4300G>C | ||
| ENST00000682673.1:n.4167G>C | ||
| ENST00000682805.1:n.4590G>C | ||
| ENST00000682965.1:c.*430G>C | ENSP00000508229.1:n.*430G>C | |
| ENST00000683093.1:n.4322G>C | ||
| ENST00000683136.1:c.3891G>C | ENSP00000507768.1:p.Lys1297Asn | |
| ENST00000683153.1:n.4265G>C | ||
| ENST00000683365.1:n.4325G>C | ||
| ENST00000683377.1:n.4223G>C | ||
| ENST00000683456.1:c.*1145G>C | ENSP00000508318.1:n.*1145G>C | |
| ENST00000683522.1:n.4223G>C | ||
| ENST00000683562.1:c.*2177G>C | ENSP00000508265.1:n.*2177G>C | |
| ENST00000683693.1:n.4670G>C | ||
| ENST00000683725.1:c.4008G>C | ENSP00000507496.1:p.Lys1336Asn | |
| ENST00000684010.1:n.4218G>C | ||
| ENST00000684157.1:n.4223G>C | ||
| ENST00000684253.1:n.4126G>C | ||
| ENST00000684288.1:c.*2180G>C | ENSP00000507143.1:n.*2180G>C | |
| ENST00000684313.1:n.3655G>C | ||
| ENST00000684332.1:n.4296G>C | ||
| ENST00000684371.1:n.4329G>C | ||
| ENST00000684404.1:n.4266G>C | ||
| ENST00000684442.1:n.4447G>C | ||
| ENST00000684555.1:c.*2220G>C | ENSP00000507705.1:n.*2220G>C | |
| ENST00000684571.1:c.3849G>C | ENSP00000506935.1:p.Lys1283Asn | |
| ENST00000684593.1:c.*3713G>C | ENSP00000507005.1:n.*3713G>C | |
| ENST00000684711.1:c.*2404G>C | ENSP00000506841.1:n.*2404G>C | |
| ENST00000302539.9:c.4011G>C | ENSP00000303960.4:p.Lys1337Asn | |
| ENST00000389817.8:c.4008G>C MANE Select | ENSP00000374467.4:p.Lys1336Asn | |
| ENST00000642271.1:c.4005G>C | ENSP00000493749.1:p.Lys1335Asn | |
| ENST00000642579.1:c.2073-11G>C | ||
| ENST00000642611.1:n.4108G>C | ||
| ENST00000642902.1:c.3790G>C | ||
| ENST00000643260.1:c.4008G>C | ENSP00000494450.1:p.Lys1336Asn | |
| ENST00000643562.1:c.*2130G>C | ENSP00000496124.1:n.*2130G>C | |
| ENST00000643925.1:c.2648G>C | ||
| ENST00000644057.1:n.85G>C | ||
| ENST00000644484.1:c.*2409G>C | ENSP00000493558.1:n.*2409G>C | |
| ENST00000644675.1:c.*2180G>C | ENSP00000494567.1:n.*2180G>C | |
| ENST00000644757.1:c.*2439G>C | ENSP00000495085.1:n.*2439G>C | |
| ENST00000644772.1:c.4074G>C | ENSP00000494321.1:p.Lys1358Asn | |
| ENST00000645004.1:n.1663G>C | ||
| ENST00000645076.1:c.3207G>C | ||
| ENST00000645417.1:c.1196G>C | ||
| ENST00000645744.1:c.*2788G>C | ENSP00000494564.1:n.*2788G>C | |
| ENST00000645760.1:c.4429G>C | ||
| ENST00000645884.1:c.*1291G>C | ENSP00000495516.1:n.*1291G>C | |
| ENST00000646003.1:c.*2110G>C | ENSP00000495259.1:n.*2110G>C | |
| ENST00000646207.1:c.*2845G>C | ENSP00000495025.1:n.*2845G>C | |
| ENST00000646276.1:c.*2427G>C | ENSP00000496070.1:n.*2427G>C | |
| ENST00000646592.1:c.3314G>C | ||
| ENST00000646902.1:c.3986-11G>C | ENSP00000494101.1:n.3986-11G>C | |
| ENST00000646993.1:c.*2550G>C | ENSP00000493720.1:n.*2550G>C | |
| ENST00000647013.1:c.4014G>C | ENSP00000496741.1:n.4014G>C | |
| ENST00000647015.1:c.3759G>C | ENSP00000495389.1:p.Lys1253Asn | |
| ENST00000647086.1:c.*3605-11G>C | ENSP00000493677.1:n.*3605-11G>C | |
| ENST00000647158.1:c.*2295G>C | ENSP00000495744.1:n.*2295G>C | |
| ENST00000302539.8:c.4011G>C | ENSP00000303960.4:p.Lys1337Asn | |
| ENST00000389817.7:c.4008G>C | ENSP00000374467.3:p.Lys1336Asn | |
| ENST00000527905.5:c.*1030G>C | ENSP00000431653.1:n.*1030G>C | |
| ENST00000528374.1:c.490G>C | ||
| ENST00000531137.1:n.573G>C | ||
| ENST00000531891.1:c.357-11G>C | ||
| ENST00000532220.1:n.482G>C | ||
| NM_000352.4:c.4008G>C | NP_000343.2:p.Lys1336Asn | |
| NM_001287174.1:c.4011G>C | NP_001274103.1:p.Lys1337Asn | |
| XM_011520331.1:c.4008G>C | XP_011518633.1:p.Lys1336Asn | |
| XM_011520332.1:c.4011G>C | XP_011518634.1:p.Lys1337Asn | |
| XM_011520333.1:c.2508G>C | XP_011518635.1:p.Lys836Asn | |
| XR_930890.1:n.4074G>C | ||
| NM_001351295.1:c.4074G>C | NP_001338224.1:p.Lys1358Asn | |
| NM_001351296.1:c.4008G>C | NP_001338225.1:p.Lys1336Asn | |
| NM_001351297.1:c.4005G>C | NP_001338226.1:p.Lys1335Asn | |
| NR_147094.1:n.4303G>C | ||
| XM_017018197.2:c.4077G>C | XP_016873686.1:p.Lys1359Asn | |
| XM_017018199.1:c.4074G>C | XP_016873688.1:p.Lys1358Asn | |
| XM_017018201.2:c.4077G>C | XP_016873690.1:p.Lys1359Asn | |
| XM_017018202.1:c.2574G>C | XP_016873691.1:p.Lys858Asn | |
| XM_017018204.1:c.1965G>C | XP_016873693.1:p.Lys655Asn | |
| XM_024448668.1:c.2376G>C | XP_024304436.1:p.Lys792Asn | |
| XR_001747945.2:n.4149G>C | ||
| XR_001747946.2:n.4080G>C | ||
| XR_002957189.1:n.4745G>C | ||
| NM_000352.6:c.4008G>C MANE Select | NP_000343.2:p.Lys1336Asn | |
| NM_001287174.2:c.4011G>C | NP_001274103.1:p.Lys1337Asn | |
| NM_001351295.2:c.4074G>C | NP_001338224.1:p.Lys1358Asn | |
| NM_001351296.2:c.4008G>C | NP_001338225.1:p.Lys1336Asn | |
| NM_001351297.2:c.4005G>C | NP_001338226.1:p.Lys1335Asn | |
| NR_147094.2:n.4303G>C | ||
| NM_001287174.3:c.4011G>C | NP_001274103.1:p.Lys1337Asn |