Linked Data
ClinVar Variation Id:
188905
dbSNP Id:
rs541269678
ExAC:
11:17428964 G / A
gnomAD v2:
11-17428964-G-A
gnomAD v3:
11-17407417-G-A
gnomAD v4:
11-17407417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17407417G>A , CM000673.2:g.17407417G>A | GRCh38 |
| NC_000011.9:g.17428964G>A , CM000673.1:g.17428964G>A | GRCh37 |
| NC_000011.8:g.17385540G>A | NCBI36 |
| NG_008867.1:g.74486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2490-288C>T | ||
| ENST00000529967.6:n.1116C>T | ||
| ENST00000532220.2:n.589C>T | ||
| ENST00000642611.2:n.2926C>T | ||
| ENST00000645004.2:n.356C>T | ||
| ENST00000682051.1:n.2873C>T | ||
| ENST00000682110.1:n.2926C>T | ||
| ENST00000682140.1:c.2854C>T | ENSP00000507829.1:p.Gln952Ter | |
| ENST00000682185.1:n.4162C>T | ||
| ENST00000682204.1:c.*995C>T | ENSP00000507094.1:n.*995C>T | |
| ENST00000682215.1:n.2923C>T | ||
| ENST00000682288.1:c.*1288C>T | ENSP00000507506.1:n.*1288C>T | |
| ENST00000682442.1:n.3047C>T | ||
| ENST00000682528.1:n.2923C>T | ||
| ENST00000682673.1:n.2870C>T | ||
| ENST00000682805.1:n.2923C>T | ||
| ENST00000682965.1:c.2854C>T | ENSP00000508229.1:p.Gln952Ter | |
| ENST00000683093.1:n.3025C>T | ||
| ENST00000683136.1:c.2854C>T | ENSP00000507768.1:p.Gln952Ter | |
| ENST00000683153.1:n.3082C>T | ||
| ENST00000683365.1:n.3028C>T | ||
| ENST00000683377.1:n.2926C>T | ||
| ENST00000683456.1:c.2857C>T | ENSP00000508318.1:p.Gln953Ter | |
| ENST00000683522.1:n.2926C>T | ||
| ENST00000683562.1:c.*1026C>T | ENSP00000508265.1:n.*1026C>T | |
| ENST00000683693.1:n.2923C>T | ||
| ENST00000683725.1:c.2857C>T | ENSP00000507496.1:p.Gln953Ter | |
| ENST00000684010.1:n.2841C>T | ||
| ENST00000684157.1:n.2926C>T | ||
| ENST00000684253.1:n.2829C>T | ||
| ENST00000684288.1:c.*1029C>T | ENSP00000507143.1:n.*1029C>T | |
| ENST00000684313.1:n.2358C>T | ||
| ENST00000684332.1:n.2999C>T | ||
| ENST00000684371.1:n.3032C>T | ||
| ENST00000684404.1:n.2923C>T | ||
| ENST00000684442.1:n.2926C>T | ||
| ENST00000684555.1:c.*1069C>T | ENSP00000507705.1:n.*1069C>T | |
| ENST00000684571.1:c.2698C>T | ENSP00000506935.1:p.Gln900Ter | |
| ENST00000684593.1:c.*2562C>T | ENSP00000507005.1:n.*2562C>T | |
| ENST00000684711.1:c.*1253C>T | ENSP00000506841.1:n.*1253C>T | |
| ENST00000302539.9:c.2860C>T | ENSP00000303960.4:p.Gln954Ter | |
| ENST00000389817.8:c.2857C>T MANE Select | ENSP00000374467.4:p.Gln953Ter | |
| ENST00000642271.1:c.2854C>T | ENSP00000493749.1:p.Gln952Ter | |
| ENST00000642579.1:c.941C>T | ||
| ENST00000642611.1:n.2811C>T | ||
| ENST00000642902.1:c.2692C>T | ||
| ENST00000643260.1:c.2857C>T | ENSP00000494450.1:p.Gln953Ter | |
| ENST00000643562.1:c.*833C>T | ENSP00000496124.1:n.*833C>T | |
| ENST00000643925.1:c.901C>T | ||
| ENST00000644447.1:c.1213C>T | ENSP00000496282.1:p.Gln405Ter | |
| ENST00000644484.1:c.*1066C>T | ENSP00000493558.1:n.*1066C>T | |
| ENST00000644542.1:c.*2562C>T | ENSP00000495532.1:n.*2562C>T | |
| ENST00000644675.1:c.*1029C>T | ENSP00000494567.1:n.*1029C>T | |
| ENST00000644757.1:c.*1126-208C>T | ENSP00000495085.1:n.*1126-208C>T | |
| ENST00000644772.1:c.2923C>T | ENSP00000494321.1:p.Gln975Ter | |
| ENST00000645076.1:c.2109C>T | ||
| ENST00000645417.1:c.23C>T | ||
| ENST00000645744.1:c.*1185-288C>T | ENSP00000494564.1:n.*1185-288C>T | |
| ENST00000645760.1:c.3132C>T | ||
| ENST00000645884.1:c.2857C>T | ENSP00000495516.1:p.Gln953Ter | |
| ENST00000646003.1:c.*877-288C>T | ENSP00000495259.1:n.*877-288C>T | |
| ENST00000646207.1:c.*1324C>T | ENSP00000495025.1:n.*1324C>T | |
| ENST00000646276.1:c.*1130C>T | ENSP00000496070.1:n.*1130C>T | |
| ENST00000646592.1:c.2083C>T | ||
| ENST00000646902.1:c.2854C>T | ENSP00000494101.1:p.Gln952Ter | |
| ENST00000646993.1:c.*1253C>T | ENSP00000493720.1:n.*1253C>T | |
| ENST00000647013.1:c.2863C>T | ENSP00000496741.1:n.2863C>T | |
| ENST00000647015.1:c.2608C>T | ENSP00000495389.1:p.Gln870Ter | |
| ENST00000647086.1:c.*2587C>T | ENSP00000493677.1:n.*2587C>T | |
| ENST00000647158.1:c.*998C>T | ENSP00000495744.1:n.*998C>T | |
| ENST00000302539.8:c.2860C>T | ENSP00000303960.4:p.Gln954Ter | |
| ENST00000389817.7:c.2857C>T | ENSP00000374467.3:p.Gln953Ter | |
| ENST00000526921.5:n.541C>T | ||
| ENST00000527905.5:c.2791-288C>T | ENSP00000431653.1:n.2791-288C>T | |
| ENST00000529967.5:n.526C>T | ||
| NM_000352.4:c.2857C>T | NP_000343.2:p.Gln953Ter | |
| NM_001287174.1:c.2860C>T | NP_001274103.1:p.Gln954Ter | |
| XM_011520331.1:c.2857C>T | XP_011518633.1:p.Gln953Ter | |
| XM_011520332.1:c.2860C>T | XP_011518634.1:p.Gln954Ter | |
| XM_011520333.1:c.1357C>T | XP_011518635.1:p.Gln453Ter | |
| XM_011520334.1:c.2860C>T | XP_011518636.1:p.Gln954Ter | |
| XR_930890.1:n.2923C>T | ||
| XR_930891.1:n.2923C>T | ||
| XR_930892.1:n.2887-288C>T | ||
| XR_930893.1:n.2884-288C>T | ||
| NM_001351295.1:c.2923C>T | NP_001338224.1:p.Gln975Ter | |
| NM_001351296.1:c.2857C>T | NP_001338225.1:p.Gln953Ter | |
| NM_001351297.1:c.2854C>T | NP_001338226.1:p.Gln952Ter | |
| NR_147094.1:n.2926C>T | ||
| XM_017018197.2:c.2926C>T | XP_016873686.1:p.Gln976Ter | |
| XM_017018199.1:c.2923C>T | XP_016873688.1:p.Gln975Ter | |
| XM_017018201.2:c.2926C>T | XP_016873690.1:p.Gln976Ter | |
| XM_017018202.1:c.1423C>T | XP_016873691.1:p.Gln475Ter | |
| XM_017018204.1:c.814C>T | XP_016873693.1:p.Gln272Ter | |
| XM_024448668.1:c.1225C>T | XP_024304436.1:p.Gln409Ter | |
| XR_001747945.2:n.2998C>T | ||
| XR_001747946.2:n.2929C>T | ||
| XR_002957189.1:n.2998C>T | ||
| NM_000352.6:c.2857C>T MANE Select | NP_000343.2:p.Gln953Ter | |
| NM_001287174.2:c.2860C>T | NP_001274103.1:p.Gln954Ter | |
| NM_001351295.2:c.2923C>T | NP_001338224.1:p.Gln975Ter | |
| NM_001351296.2:c.2857C>T | NP_001338225.1:p.Gln953Ter | |
| NM_001351297.2:c.2854C>T | NP_001338226.1:p.Gln952Ter | |
| NR_147094.2:n.2926C>T | ||
| NM_001287174.3:c.2860C>T | NP_001274103.1:p.Gln954Ter |