Linked Data
ClinVar Variation Id:
2025515
ClinVar RCV Id:
RCV002853210
MyVariant Identifiers:
chr11:g.17418571G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17397024G>A , CM000673.2:g.17397024G>A | GRCh38 |
| NC_000011.9:g.17418571G>A , CM000673.1:g.17418571G>A | GRCh37 |
| NC_000011.8:g.17375147G>A | NCBI36 |
| NG_008867.1:g.84879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3612C>T | ||
| ENST00000528374.2:c.602C>T | ||
| ENST00000529967.6:n.2350C>T | ||
| ENST00000532220.2:n.2259C>T | ||
| ENST00000642611.2:n.4226C>T | ||
| ENST00000644057.2:n.454C>T | ||
| ENST00000645004.2:n.1510C>T | ||
| ENST00000682051.1:n.4173C>T | ||
| ENST00000682110.1:n.4226C>T | ||
| ENST00000682140.1:c.3985+169C>T | ENSP00000507829.1:n.3985+169C>T | |
| ENST00000682185.1:n.5316C>T | ||
| ENST00000682204.1:c.*2149C>T | ENSP00000507094.1:n.*2149C>T | |
| ENST00000682215.1:n.4593C>T | ||
| ENST00000682288.1:c.*2442C>T | ENSP00000507506.1:n.*2442C>T | |
| ENST00000682442.1:n.4446C>T | ||
| ENST00000682528.1:n.4303C>T | ||
| ENST00000682673.1:n.4170C>T | ||
| ENST00000682805.1:n.4593C>T | ||
| ENST00000682965.1:c.*433C>T | ENSP00000508229.1:n.*433C>T | |
| ENST00000683093.1:n.4325C>T | ||
| ENST00000683136.1:c.3894C>T | ENSP00000507768.1:p.Asn1298= | |
| ENST00000683153.1:n.4268C>T | ||
| ENST00000683365.1:n.4328C>T | ||
| ENST00000683377.1:n.4226C>T | ||
| ENST00000683456.1:c.*1148C>T | ENSP00000508318.1:n.*1148C>T | |
| ENST00000683522.1:n.4226C>T | ||
| ENST00000683562.1:c.*2180C>T | ENSP00000508265.1:n.*2180C>T | |
| ENST00000683693.1:n.4673C>T | ||
| ENST00000683725.1:c.4011C>T | ENSP00000507496.1:p.Asn1337= | |
| ENST00000684010.1:n.4221C>T | ||
| ENST00000684157.1:n.4226C>T | ||
| ENST00000684253.1:n.4129C>T | ||
| ENST00000684288.1:c.*2183C>T | ENSP00000507143.1:n.*2183C>T | |
| ENST00000684313.1:n.3658C>T | ||
| ENST00000684332.1:n.4299C>T | ||
| ENST00000684371.1:n.4332C>T | ||
| ENST00000684404.1:n.4269C>T | ||
| ENST00000684442.1:n.4450C>T | ||
| ENST00000684555.1:c.*2223C>T | ENSP00000507705.1:n.*2223C>T | |
| ENST00000684571.1:c.3852C>T | ENSP00000506935.1:p.Asn1284= | |
| ENST00000684593.1:c.*3716C>T | ENSP00000507005.1:n.*3716C>T | |
| ENST00000684711.1:c.*2407C>T | ENSP00000506841.1:n.*2407C>T | |
| ENST00000302539.9:c.4014C>T | ENSP00000303960.4:p.Asn1338= | |
| ENST00000389817.8:c.4011C>T MANE Select | ENSP00000374467.4:p.Asn1337= | |
| ENST00000642271.1:c.4008C>T | ENSP00000493749.1:p.Asn1336= | |
| ENST00000642579.1:c.2073-8C>T | ||
| ENST00000642611.1:n.4111C>T | ||
| ENST00000642902.1:c.3793C>T | ||
| ENST00000643260.1:c.4011C>T | ENSP00000494450.1:p.Asn1337= | |
| ENST00000643562.1:c.*2133C>T | ENSP00000496124.1:n.*2133C>T | |
| ENST00000643925.1:c.2651C>T | ||
| ENST00000644057.1:n.88C>T | ||
| ENST00000644484.1:c.*2412C>T | ENSP00000493558.1:n.*2412C>T | |
| ENST00000644675.1:c.*2183C>T | ENSP00000494567.1:n.*2183C>T | |
| ENST00000644757.1:c.*2442C>T | ENSP00000495085.1:n.*2442C>T | |
| ENST00000644772.1:c.4077C>T | ENSP00000494321.1:p.Asn1359= | |
| ENST00000645004.1:n.1666C>T | ||
| ENST00000645076.1:c.3210C>T | ||
| ENST00000645417.1:c.1199C>T | ||
| ENST00000645744.1:c.*2791C>T | ENSP00000494564.1:n.*2791C>T | |
| ENST00000645760.1:c.4432C>T | ||
| ENST00000645884.1:c.*1294C>T | ENSP00000495516.1:n.*1294C>T | |
| ENST00000646003.1:c.*2113C>T | ENSP00000495259.1:n.*2113C>T | |
| ENST00000646207.1:c.*2848C>T | ENSP00000495025.1:n.*2848C>T | |
| ENST00000646276.1:c.*2430C>T | ENSP00000496070.1:n.*2430C>T | |
| ENST00000646592.1:c.3317C>T | ||
| ENST00000646902.1:c.3986-8C>T | ENSP00000494101.1:n.3986-8C>T | |
| ENST00000646993.1:c.*2553C>T | ENSP00000493720.1:n.*2553C>T | |
| ENST00000647013.1:c.4017C>T | ENSP00000496741.1:n.4017C>T | |
| ENST00000647015.1:c.3762C>T | ENSP00000495389.1:p.Asn1254= | |
| ENST00000647086.1:c.*3605-8C>T | ENSP00000493677.1:n.*3605-8C>T | |
| ENST00000647158.1:c.*2298C>T | ENSP00000495744.1:n.*2298C>T | |
| ENST00000302539.8:c.4014C>T | ENSP00000303960.4:p.Asn1338= | |
| ENST00000389817.7:c.4011C>T | ENSP00000374467.3:p.Asn1337= | |
| ENST00000527905.5:c.*1033C>T | ENSP00000431653.1:n.*1033C>T | |
| ENST00000528374.1:c.493C>T | ||
| ENST00000531137.1:n.576C>T | ||
| ENST00000531891.1:c.357-8C>T | ||
| ENST00000532220.1:n.485C>T | ||
| NM_000352.4:c.4011C>T | NP_000343.2:p.Asn1337= | |
| NM_001287174.1:c.4014C>T | NP_001274103.1:p.Asn1338= | |
| XM_011520331.1:c.4011C>T | XP_011518633.1:p.Asn1337= | |
| XM_011520332.1:c.4014C>T | XP_011518634.1:p.Asn1338= | |
| XM_011520333.1:c.2511C>T | XP_011518635.1:p.Asn837= | |
| XR_930890.1:n.4077C>T | ||
| NM_001351295.1:c.4077C>T | NP_001338224.1:p.Asn1359= | |
| NM_001351296.1:c.4011C>T | NP_001338225.1:p.Asn1337= | |
| NM_001351297.1:c.4008C>T | NP_001338226.1:p.Asn1336= | |
| NR_147094.1:n.4306C>T | ||
| XM_017018197.2:c.4080C>T | XP_016873686.1:p.Asn1360= | |
| XM_017018199.1:c.4077C>T | XP_016873688.1:p.Asn1359= | |
| XM_017018201.2:c.4080C>T | XP_016873690.1:p.Asn1360= | |
| XM_017018202.1:c.2577C>T | XP_016873691.1:p.Asn859= | |
| XM_017018204.1:c.1968C>T | XP_016873693.1:p.Asn656= | |
| XM_024448668.1:c.2379C>T | XP_024304436.1:p.Asn793= | |
| XR_001747945.2:n.4152C>T | ||
| XR_001747946.2:n.4083C>T | ||
| XR_002957189.1:n.4748C>T | ||
| NM_000352.6:c.4011C>T MANE Select | NP_000343.2:p.Asn1337= | |
| NM_001287174.2:c.4014C>T | NP_001274103.1:p.Asn1338= | |
| NM_001351295.2:c.4077C>T | NP_001338224.1:p.Asn1359= | |
| NM_001351296.2:c.4011C>T | NP_001338225.1:p.Asn1337= | |
| NM_001351297.2:c.4008C>T | NP_001338226.1:p.Asn1336= | |
| NR_147094.2:n.4306C>T | ||
| NM_001287174.3:c.4014C>T | NP_001274103.1:p.Asn1338= |