Linked Data
ClinVar Variation Id:
2701632
ClinVar RCV Id:
RCV003549778
MyVariant Identifiers:
chr11:g.17414661G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393114G>A , CM000673.2:g.17393114G>A | GRCh38 |
| NC_000011.9:g.17414661G>A , CM000673.1:g.17414661G>A | GRCh37 |
| NC_000011.8:g.17371237G>A | NCBI36 |
| NG_008867.1:g.88789C>T | |
| NG_012446.1:g.546C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4224C>T | ||
| ENST00000526037.6:n.558C>T | ||
| ENST00000528374.2:c.1214C>T | ||
| ENST00000529967.6:n.2962C>T | ||
| ENST00000532220.2:n.3856C>T | ||
| ENST00000642611.2:n.5956C>T | ||
| ENST00000644057.2:n.1199C>T | ||
| ENST00000645004.2:n.2122C>T | ||
| ENST00000682051.1:n.4785C>T | ||
| ENST00000682110.1:n.4838C>T | ||
| ENST00000682140.1:c.*409C>T | ENSP00000507829.1:n.*409C>T | |
| ENST00000682185.1:n.5928C>T | ||
| ENST00000682204.1:c.*2761C>T | ENSP00000507094.1:n.*2761C>T | |
| ENST00000682215.1:n.5205C>T | ||
| ENST00000682288.1:c.*3054C>T | ENSP00000507506.1:n.*3054C>T | |
| ENST00000682442.1:n.5058C>T | ||
| ENST00000682528.1:n.4915C>T | ||
| ENST00000682673.1:n.4782C>T | ||
| ENST00000682805.1:n.5243C>T | ||
| ENST00000682965.1:c.*1045C>T | ENSP00000508229.1:n.*1045C>T | |
| ENST00000683093.1:n.5818C>T | ||
| ENST00000683136.1:c.4506C>T | ENSP00000507768.1:p.Thr1502= | |
| ENST00000683153.1:n.4880C>T | ||
| ENST00000683365.1:n.4940C>T | ||
| ENST00000683377.1:n.4734C>T | ||
| ENST00000683456.1:c.*1760C>T | ENSP00000508318.1:n.*1760C>T | |
| ENST00000683522.1:n.4920C>T | ||
| ENST00000683562.1:c.*2688C>T | ENSP00000508265.1:n.*2688C>T | |
| ENST00000683693.1:n.6299C>T | ||
| ENST00000683725.1:c.*88C>T | ENSP00000507496.1:n.*88C>T | |
| ENST00000684010.1:n.4833C>T | ||
| ENST00000684014.1:n.810C>T | ||
| ENST00000684157.1:n.5823C>T | ||
| ENST00000684253.1:n.4741C>T | ||
| ENST00000684288.1:c.*2795C>T | ENSP00000507143.1:n.*2795C>T | |
| ENST00000684313.1:n.4270C>T | ||
| ENST00000684332.1:n.4911C>T | ||
| ENST00000684371.1:n.4944C>T | ||
| ENST00000684404.1:n.5866C>T | ||
| ENST00000684442.1:n.5062C>T | ||
| ENST00000684555.1:c.*2835C>T | ENSP00000507705.1:n.*2835C>T | |
| ENST00000684571.1:c.4464C>T | ENSP00000506935.1:p.Thr1488= | |
| ENST00000684593.1:c.*4328C>T | ENSP00000507005.1:n.*4328C>T | |
| ENST00000684711.1:c.*3019C>T | ENSP00000506841.1:n.*3019C>T | |
| ENST00000302539.9:c.4626C>T | ENSP00000303960.4:p.Thr1542= | |
| ENST00000389817.8:c.4623C>T MANE Select | ENSP00000374467.4:p.Thr1541= | |
| ENST00000642271.1:c.4620C>T | ENSP00000493749.1:p.Thr1540= | |
| ENST00000642579.1:c.2677C>T | ||
| ENST00000642611.1:n.5841C>T | ||
| ENST00000642902.1:c.4405C>T | ||
| ENST00000643260.1:c.4623C>T | ENSP00000494450.1:p.Thr1541= | |
| ENST00000643562.1:c.*2745C>T | ENSP00000496124.1:n.*2745C>T | |
| ENST00000643925.1:c.3200C>T | ||
| ENST00000644057.1:n.782C>T | ||
| ENST00000644484.1:c.*4009C>T | ENSP00000493558.1:n.*4009C>T | |
| ENST00000644675.1:c.*2795C>T | ENSP00000494567.1:n.*2795C>T | |
| ENST00000644757.1:c.*3203-134C>T | ENSP00000495085.1:n.*3203-134C>T | |
| ENST00000644772.1:c.4689C>T | ENSP00000494321.1:p.Thr1563= | |
| ENST00000645004.1:n.2316C>T | ||
| ENST00000645076.1:c.3718C>T | ||
| ENST00000645417.1:c.1811C>T | ||
| ENST00000645744.1:c.*4308C>T | ENSP00000494564.1:n.*4308C>T | |
| ENST00000645760.1:c.5044C>T | ||
| ENST00000645884.1:c.*1906C>T | ENSP00000495516.1:n.*1906C>T | |
| ENST00000646003.1:c.*2645C>T | ENSP00000495259.1:n.*2645C>T | |
| ENST00000646207.1:c.*3460C>T | ENSP00000495025.1:n.*3460C>T | |
| ENST00000646276.1:c.*4027C>T | ENSP00000496070.1:n.*4027C>T | |
| ENST00000646592.1:c.3929C>T | ||
| ENST00000646902.1:c.4590C>T | ENSP00000494101.1:p.Thr1530= | |
| ENST00000646993.1:c.*3061C>T | ENSP00000493720.1:n.*3061C>T | |
| ENST00000647015.1:c.4374C>T | ENSP00000495389.1:p.Thr1458= | |
| ENST00000647086.1:c.*4209C>T | ENSP00000493677.1:n.*4209C>T | |
| ENST00000647158.1:c.*2910C>T | ENSP00000495744.1:n.*2910C>T | |
| ENST00000302539.8:c.4626C>T | ENSP00000303960.4:p.Thr1542= | |
| ENST00000389817.7:c.4623C>T | ENSP00000374467.3:p.Thr1541= | |
| ENST00000525022.1:n.602C>T | ||
| ENST00000526037.5:n.383C>T | ||
| ENST00000526168.5:c.411C>T | ||
| ENST00000531642.5:c.654C>T | ||
| NM_000352.4:c.4623C>T | NP_000343.2:p.Thr1541= | |
| NM_001287174.1:c.4626C>T | NP_001274103.1:p.Thr1542= | |
| XM_011520331.1:c.4623C>T | XP_011518633.1:p.Thr1541= | |
| XM_011520333.1:c.3123C>T | XP_011518635.1:p.Thr1041= | |
| XR_930890.1:n.4585C>T | ||
| NM_001351295.1:c.4689C>T | NP_001338224.1:p.Thr1563= | |
| NM_001351296.1:c.4623C>T | NP_001338225.1:p.Thr1541= | |
| NM_001351297.1:c.4620C>T | NP_001338226.1:p.Thr1540= | |
| NR_147094.1:n.4918C>T | ||
| XM_017018197.2:c.4692C>T | XP_016873686.1:p.Thr1564= | |
| XM_017018199.1:c.4689C>T | XP_016873688.1:p.Thr1563= | |
| XM_017018202.1:c.3189C>T | XP_016873691.1:p.Thr1063= | |
| XM_017018204.1:c.2580C>T | XP_016873693.1:p.Thr860= | |
| XM_024448668.1:c.2991C>T | XP_024304436.1:p.Thr997= | |
| XR_001747945.2:n.4660C>T | ||
| XR_001747946.2:n.4591C>T | ||
| XR_002957189.1:n.6374C>T | ||
| NM_000352.6:c.4623C>T MANE Select | NP_000343.2:p.Thr1541= | |
| NM_001287174.2:c.4626C>T | NP_001274103.1:p.Thr1542= | |
| NM_001351295.2:c.4689C>T | NP_001338224.1:p.Thr1563= | |
| NM_001351296.2:c.4623C>T | NP_001338225.1:p.Thr1541= | |
| NM_001351297.2:c.4620C>T | NP_001338226.1:p.Thr1540= | |
| NR_147094.2:n.4918C>T | ||
| NM_001287174.3:c.4626C>T | NP_001274103.1:p.Thr1542= |