Linked Data
ClinVar Variation Id:
188836
dbSNP Id:
rs72559713
ExAC:
11:17414656 A / G
gnomAD v2:
11-17414656-A-G
gnomAD v3:
11-17393109-A-G
gnomAD v4:
11-17393109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393109A>G , CM000673.2:g.17393109A>G | GRCh38 |
| NC_000011.9:g.17414656A>G , CM000673.1:g.17414656A>G | GRCh37 |
| NC_000011.8:g.17371232A>G | NCBI36 |
| NG_008867.1:g.88794T>C | |
| NG_012446.1:g.551T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4229T>C | ||
| ENST00000526037.6:n.563T>C | ||
| ENST00000528374.2:c.1219T>C | ||
| ENST00000529967.6:n.2967T>C | ||
| ENST00000532220.2:n.3861T>C | ||
| ENST00000642611.2:n.5961T>C | ||
| ENST00000644057.2:n.1204T>C | ||
| ENST00000645004.2:n.2127T>C | ||
| ENST00000682051.1:n.4790T>C | ||
| ENST00000682110.1:n.4843T>C | ||
| ENST00000682140.1:c.*414T>C | ENSP00000507829.1:n.*414T>C | |
| ENST00000682185.1:n.5933T>C | ||
| ENST00000682204.1:c.*2766T>C | ENSP00000507094.1:n.*2766T>C | |
| ENST00000682215.1:n.5210T>C | ||
| ENST00000682288.1:c.*3059T>C | ENSP00000507506.1:n.*3059T>C | |
| ENST00000682442.1:n.5063T>C | ||
| ENST00000682528.1:n.4920T>C | ||
| ENST00000682673.1:n.4787T>C | ||
| ENST00000682805.1:n.5248T>C | ||
| ENST00000682965.1:c.*1050T>C | ENSP00000508229.1:n.*1050T>C | |
| ENST00000683093.1:n.5823T>C | ||
| ENST00000683136.1:c.4511T>C | ENSP00000507768.1:p.Leu1504Pro | |
| ENST00000683153.1:n.4885T>C | ||
| ENST00000683365.1:n.4945T>C | ||
| ENST00000683377.1:n.4739T>C | ||
| ENST00000683456.1:c.*1765T>C | ENSP00000508318.1:n.*1765T>C | |
| ENST00000683522.1:n.4925T>C | ||
| ENST00000683562.1:c.*2693T>C | ENSP00000508265.1:n.*2693T>C | |
| ENST00000683693.1:n.6304T>C | ||
| ENST00000683725.1:c.*93T>C | ENSP00000507496.1:n.*93T>C | |
| ENST00000684010.1:n.4838T>C | ||
| ENST00000684014.1:n.815T>C | ||
| ENST00000684157.1:n.5828T>C | ||
| ENST00000684253.1:n.4746T>C | ||
| ENST00000684288.1:c.*2800T>C | ENSP00000507143.1:n.*2800T>C | |
| ENST00000684313.1:n.4275T>C | ||
| ENST00000684332.1:n.4916T>C | ||
| ENST00000684371.1:n.4949T>C | ||
| ENST00000684404.1:n.5871T>C | ||
| ENST00000684442.1:n.5067T>C | ||
| ENST00000684555.1:c.*2840T>C | ENSP00000507705.1:n.*2840T>C | |
| ENST00000684571.1:c.4469T>C | ENSP00000506935.1:p.Leu1490Pro | |
| ENST00000684593.1:c.*4333T>C | ENSP00000507005.1:n.*4333T>C | |
| ENST00000684711.1:c.*3024T>C | ENSP00000506841.1:n.*3024T>C | |
| ENST00000302539.9:c.4631T>C | ENSP00000303960.4:p.Leu1544Pro | |
| ENST00000389817.8:c.4628T>C MANE Select | ENSP00000374467.4:p.Leu1543Pro | |
| ENST00000642271.1:c.4625T>C | ENSP00000493749.1:p.Leu1542Pro | |
| ENST00000642579.1:c.2682T>C | ||
| ENST00000642611.1:n.5846T>C | ||
| ENST00000642902.1:c.4410T>C | ||
| ENST00000643260.1:c.4628T>C | ENSP00000494450.1:p.Leu1543Pro | |
| ENST00000643562.1:c.*2750T>C | ENSP00000496124.1:n.*2750T>C | |
| ENST00000643925.1:c.3205T>C | ||
| ENST00000644057.1:n.787T>C | ||
| ENST00000644484.1:c.*4014T>C | ENSP00000493558.1:n.*4014T>C | |
| ENST00000644675.1:c.*2800T>C | ENSP00000494567.1:n.*2800T>C | |
| ENST00000644757.1:c.*3203-129T>C | ENSP00000495085.1:n.*3203-129T>C | |
| ENST00000644772.1:c.4694T>C | ENSP00000494321.1:p.Leu1565Pro | |
| ENST00000645004.1:n.2321T>C | ||
| ENST00000645076.1:c.3723T>C | ||
| ENST00000645417.1:c.1816T>C | ||
| ENST00000645744.1:c.*4313T>C | ENSP00000494564.1:n.*4313T>C | |
| ENST00000645760.1:c.5049T>C | ||
| ENST00000645884.1:c.*1911T>C | ENSP00000495516.1:n.*1911T>C | |
| ENST00000646003.1:c.*2650T>C | ENSP00000495259.1:n.*2650T>C | |
| ENST00000646207.1:c.*3465T>C | ENSP00000495025.1:n.*3465T>C | |
| ENST00000646276.1:c.*4032T>C | ENSP00000496070.1:n.*4032T>C | |
| ENST00000646592.1:c.3934T>C | ||
| ENST00000646902.1:c.4595T>C | ENSP00000494101.1:p.Leu1532Pro | |
| ENST00000646993.1:c.*3066T>C | ENSP00000493720.1:n.*3066T>C | |
| ENST00000647015.1:c.4379T>C | ENSP00000495389.1:p.Leu1460Pro | |
| ENST00000647086.1:c.*4214T>C | ENSP00000493677.1:n.*4214T>C | |
| ENST00000647158.1:c.*2915T>C | ENSP00000495744.1:n.*2915T>C | |
| ENST00000302539.8:c.4631T>C | ENSP00000303960.4:p.Leu1544Pro | |
| ENST00000389817.7:c.4628T>C | ENSP00000374467.3:p.Leu1543Pro | |
| ENST00000525022.1:n.607T>C | ||
| ENST00000526037.5:n.388T>C | ||
| ENST00000526168.5:c.416T>C | ||
| ENST00000531642.5:c.659T>C | ||
| NM_000352.4:c.4628T>C | NP_000343.2:p.Leu1543Pro | |
| NM_001287174.1:c.4631T>C | NP_001274103.1:p.Leu1544Pro | |
| XM_011520331.1:c.4628T>C | XP_011518633.1:p.Leu1543Pro | |
| XM_011520333.1:c.3128T>C | XP_011518635.1:p.Leu1043Pro | |
| XR_930890.1:n.4590T>C | ||
| NM_001351295.1:c.4694T>C | NP_001338224.1:p.Leu1565Pro | |
| NM_001351296.1:c.4628T>C | NP_001338225.1:p.Leu1543Pro | |
| NM_001351297.1:c.4625T>C | NP_001338226.1:p.Leu1542Pro | |
| NR_147094.1:n.4923T>C | ||
| XM_017018197.2:c.4697T>C | XP_016873686.1:p.Leu1566Pro | |
| XM_017018199.1:c.4694T>C | XP_016873688.1:p.Leu1565Pro | |
| XM_017018202.1:c.3194T>C | XP_016873691.1:p.Leu1065Pro | |
| XM_017018204.1:c.2585T>C | XP_016873693.1:p.Leu862Pro | |
| XM_024448668.1:c.2996T>C | XP_024304436.1:p.Leu999Pro | |
| XR_001747945.2:n.4665T>C | ||
| XR_001747946.2:n.4596T>C | ||
| XR_002957189.1:n.6379T>C | ||
| NM_000352.6:c.4628T>C MANE Select | NP_000343.2:p.Leu1543Pro | |
| NM_001287174.2:c.4631T>C | NP_001274103.1:p.Leu1544Pro | |
| NM_001351295.2:c.4694T>C | NP_001338224.1:p.Leu1565Pro | |
| NM_001351296.2:c.4628T>C | NP_001338225.1:p.Leu1543Pro | |
| NM_001351297.2:c.4625T>C | NP_001338226.1:p.Leu1542Pro | |
| NR_147094.2:n.4923T>C | ||
| NM_001287174.3:c.4631T>C | NP_001274103.1:p.Leu1544Pro |