Linked Data
ClinVar Variation Id:
434042
dbSNP Id:
rs148808854
ExAC:
11:17415264 G / A
gnomAD v2:
11-17415264-G-A
gnomAD v4:
11-17393717-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393717G>A , CM000673.2:g.17393717G>A | GRCh38 |
| NC_000011.9:g.17415264G>A , CM000673.1:g.17415264G>A | GRCh37 |
| NC_000011.8:g.17371840G>A | NCBI36 |
| NG_008867.1:g.88186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4189C>T | ||
| ENST00000526037.6:n.523C>T | ||
| ENST00000528374.2:c.1179C>T | ||
| ENST00000529967.6:n.2927C>T | ||
| ENST00000532220.2:n.3821C>T | ||
| ENST00000642611.2:n.5921C>T | ||
| ENST00000644057.2:n.1164C>T | ||
| ENST00000645004.2:n.2087C>T | ||
| ENST00000682051.1:n.4750C>T | ||
| ENST00000682110.1:n.4803C>T | ||
| ENST00000682140.1:c.*374C>T | ENSP00000507829.1:n.*374C>T | |
| ENST00000682185.1:n.5893C>T | ||
| ENST00000682204.1:c.*2726C>T | ENSP00000507094.1:n.*2726C>T | |
| ENST00000682215.1:n.5170C>T | ||
| ENST00000682288.1:c.*3019C>T | ENSP00000507506.1:n.*3019C>T | |
| ENST00000682442.1:n.5023C>T | ||
| ENST00000682528.1:n.4880C>T | ||
| ENST00000682673.1:n.4747C>T | ||
| ENST00000682805.1:n.5208C>T | ||
| ENST00000682965.1:c.*1010C>T | ENSP00000508229.1:n.*1010C>T | |
| ENST00000683093.1:n.5783C>T | ||
| ENST00000683136.1:c.4471C>T | ENSP00000507768.1:p.Arg1491Cys | |
| ENST00000683153.1:n.4845C>T | ||
| ENST00000683365.1:n.4905C>T | ||
| ENST00000683377.1:n.4699C>T | ||
| ENST00000683456.1:c.*1725C>T | ENSP00000508318.1:n.*1725C>T | |
| ENST00000683522.1:n.4885C>T | ||
| ENST00000683562.1:c.*2653C>T | ENSP00000508265.1:n.*2653C>T | |
| ENST00000683693.1:n.6264C>T | ||
| ENST00000683725.1:c.*53C>T | ENSP00000507496.1:n.*53C>T | |
| ENST00000684010.1:n.4798C>T | ||
| ENST00000684014.1:n.775C>T | ||
| ENST00000684157.1:n.5788C>T | ||
| ENST00000684253.1:n.4706C>T | ||
| ENST00000684288.1:c.*2760C>T | ENSP00000507143.1:n.*2760C>T | |
| ENST00000684313.1:n.4235C>T | ||
| ENST00000684332.1:n.4876C>T | ||
| ENST00000684371.1:n.4909C>T | ||
| ENST00000684404.1:n.5831C>T | ||
| ENST00000684442.1:n.5027C>T | ||
| ENST00000684555.1:c.*2800C>T | ENSP00000507705.1:n.*2800C>T | |
| ENST00000684571.1:c.4429C>T | ENSP00000506935.1:p.Arg1477Cys | |
| ENST00000684593.1:c.*4293C>T | ENSP00000507005.1:n.*4293C>T | |
| ENST00000684711.1:c.*2984C>T | ENSP00000506841.1:n.*2984C>T | |
| ENST00000302539.9:c.4591C>T | ENSP00000303960.4:p.Arg1531Cys | |
| ENST00000389817.8:c.4588C>T MANE Select | ENSP00000374467.4:p.Arg1530Cys | |
| ENST00000642271.1:c.4585C>T | ENSP00000493749.1:p.Arg1529Cys | |
| ENST00000642579.1:c.2642C>T | ||
| ENST00000642611.1:n.5806C>T | ||
| ENST00000642902.1:c.4370C>T | ||
| ENST00000643260.1:c.4588C>T | ENSP00000494450.1:p.Arg1530Cys | |
| ENST00000643562.1:c.*2710C>T | ENSP00000496124.1:n.*2710C>T | |
| ENST00000643925.1:c.3185+549C>T | ||
| ENST00000644057.1:n.747C>T | ||
| ENST00000644484.1:c.*3974C>T | ENSP00000493558.1:n.*3974C>T | |
| ENST00000644675.1:c.*2760C>T | ENSP00000494567.1:n.*2760C>T | |
| ENST00000644757.1:c.*3203-737C>T | ENSP00000495085.1:n.*3203-737C>T | |
| ENST00000644772.1:c.4654C>T | ENSP00000494321.1:p.Arg1552Cys | |
| ENST00000645004.1:n.2281C>T | ||
| ENST00000645076.1:c.3683C>T | ||
| ENST00000645417.1:c.1776C>T | ||
| ENST00000645744.1:c.*4273C>T | ENSP00000494564.1:n.*4273C>T | |
| ENST00000645760.1:c.5009C>T | ||
| ENST00000645884.1:c.*1871C>T | ENSP00000495516.1:n.*1871C>T | |
| ENST00000646003.1:c.*2610C>T | ENSP00000495259.1:n.*2610C>T | |
| ENST00000646207.1:c.*3425C>T | ENSP00000495025.1:n.*3425C>T | |
| ENST00000646276.1:c.*3992C>T | ENSP00000496070.1:n.*3992C>T | |
| ENST00000646592.1:c.3894C>T | ||
| ENST00000646902.1:c.4555C>T | ENSP00000494101.1:p.Arg1519Cys | |
| ENST00000646993.1:c.*3026C>T | ENSP00000493720.1:n.*3026C>T | |
| ENST00000647015.1:c.4339C>T | ENSP00000495389.1:p.Arg1447Cys | |
| ENST00000647086.1:c.*4174C>T | ENSP00000493677.1:n.*4174C>T | |
| ENST00000647158.1:c.*2875C>T | ENSP00000495744.1:n.*2875C>T | |
| ENST00000302539.8:c.4591C>T | ENSP00000303960.4:p.Arg1531Cys | |
| ENST00000389817.7:c.4588C>T | ENSP00000374467.3:p.Arg1530Cys | |
| ENST00000525022.1:n.483C>T | ||
| ENST00000526037.5:n.348C>T | ||
| ENST00000526168.5:c.376C>T | ||
| ENST00000531642.5:c.619C>T | ||
| NM_000352.4:c.4588C>T | NP_000343.2:p.Arg1530Cys | |
| NM_001287174.1:c.4591C>T | NP_001274103.1:p.Arg1531Cys | |
| XM_011520331.1:c.4588C>T | XP_011518633.1:p.Arg1530Cys | |
| XM_011520333.1:c.3088C>T | XP_011518635.1:p.Arg1030Cys | |
| XR_930890.1:n.4550C>T | ||
| NM_001351295.1:c.4654C>T | NP_001338224.1:p.Arg1552Cys | |
| NM_001351296.1:c.4588C>T | NP_001338225.1:p.Arg1530Cys | |
| NM_001351297.1:c.4585C>T | NP_001338226.1:p.Arg1529Cys | |
| NR_147094.1:n.4883C>T | ||
| XM_017018197.2:c.4657C>T | XP_016873686.1:p.Arg1553Cys | |
| XM_017018199.1:c.4654C>T | XP_016873688.1:p.Arg1552Cys | |
| XM_017018202.1:c.3154C>T | XP_016873691.1:p.Arg1052Cys | |
| XM_017018204.1:c.2545C>T | XP_016873693.1:p.Arg849Cys | |
| XM_024448668.1:c.2956C>T | XP_024304436.1:p.Arg986Cys | |
| XR_001747945.2:n.4625C>T | ||
| XR_001747946.2:n.4556C>T | ||
| XR_002957189.1:n.6339C>T | ||
| NM_000352.6:c.4588C>T MANE Select | NP_000343.2:p.Arg1530Cys | |
| NM_001287174.2:c.4591C>T | NP_001274103.1:p.Arg1531Cys | |
| NM_001351295.2:c.4654C>T | NP_001338224.1:p.Arg1552Cys | |
| NM_001351296.2:c.4588C>T | NP_001338225.1:p.Arg1530Cys | |
| NM_001351297.2:c.4585C>T | NP_001338226.1:p.Arg1529Cys | |
| NR_147094.2:n.4883C>T | ||
| NM_001287174.3:c.4591C>T | NP_001274103.1:p.Arg1531Cys |