Linked Data
ClinVar Variation Id:
2021790
ClinVar RCV Id:
RCV002866416
gnomAD v4:
11-17406953-G-A
MyVariant Identifiers:
chr11:g.17428500G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406953G>A , CM000673.2:g.17406953G>A | GRCh38 |
| NC_000011.9:g.17428500G>A , CM000673.1:g.17428500G>A | GRCh37 |
| NC_000011.8:g.17385076G>A | NCBI36 |
| NG_008867.1:g.74950C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2666C>T | ||
| ENST00000529967.6:n.1436C>T | ||
| ENST00000532220.2:n.829C>T | ||
| ENST00000642611.2:n.3166C>T | ||
| ENST00000645004.2:n.596C>T | ||
| ENST00000682051.1:n.3113C>T | ||
| ENST00000682110.1:n.3166C>T | ||
| ENST00000682140.1:c.3094C>T | ENSP00000507829.1:p.Leu1032= | |
| ENST00000682185.1:n.4402C>T | ||
| ENST00000682204.1:c.*1235C>T | ENSP00000507094.1:n.*1235C>T | |
| ENST00000682215.1:n.3163C>T | ||
| ENST00000682288.1:c.*1528C>T | ENSP00000507506.1:n.*1528C>T | |
| ENST00000682442.1:n.3287C>T | ||
| ENST00000682528.1:n.3243C>T | ||
| ENST00000682673.1:n.3110C>T | ||
| ENST00000682805.1:n.3163C>T | ||
| ENST00000682965.1:c.3094C>T | ENSP00000508229.1:p.Leu1032= | |
| ENST00000683093.1:n.3265C>T | ||
| ENST00000683136.1:c.3094C>T | ENSP00000507768.1:p.Leu1032= | |
| ENST00000683153.1:n.3322C>T | ||
| ENST00000683365.1:n.3268C>T | ||
| ENST00000683377.1:n.3166C>T | ||
| ENST00000683456.1:c.*234C>T | ENSP00000508318.1:n.*234C>T | |
| ENST00000683522.1:n.3166C>T | ||
| ENST00000683562.1:c.*1266C>T | ENSP00000508265.1:n.*1266C>T | |
| ENST00000683693.1:n.3243C>T | ||
| ENST00000683725.1:c.3097C>T | ENSP00000507496.1:p.Leu1033= | |
| ENST00000684010.1:n.3161C>T | ||
| ENST00000684157.1:n.3166C>T | ||
| ENST00000684253.1:n.3069C>T | ||
| ENST00000684288.1:c.*1269C>T | ENSP00000507143.1:n.*1269C>T | |
| ENST00000684313.1:n.2598C>T | ||
| ENST00000684332.1:n.3239C>T | ||
| ENST00000684371.1:n.3272C>T | ||
| ENST00000684404.1:n.3209C>T | ||
| ENST00000684442.1:n.3166C>T | ||
| ENST00000684555.1:c.*1309C>T | ENSP00000507705.1:n.*1309C>T | |
| ENST00000684571.1:c.2938C>T | ENSP00000506935.1:p.Leu980= | |
| ENST00000684593.1:c.*2802C>T | ENSP00000507005.1:n.*2802C>T | |
| ENST00000684711.1:c.*1493C>T | ENSP00000506841.1:n.*1493C>T | |
| ENST00000302539.9:c.3100C>T | ENSP00000303960.4:p.Leu1034= | |
| ENST00000389817.8:c.3097C>T MANE Select | ENSP00000374467.4:p.Leu1033= | |
| ENST00000642271.1:c.3094C>T | ENSP00000493749.1:p.Leu1032= | |
| ENST00000642579.1:c.1181C>T | ||
| ENST00000642611.1:n.3051C>T | ||
| ENST00000642902.1:c.2879C>T | ||
| ENST00000643260.1:c.3097C>T | ENSP00000494450.1:p.Leu1033= | |
| ENST00000643562.1:c.*1073C>T | ENSP00000496124.1:n.*1073C>T | |
| ENST00000643925.1:c.1221C>T | ||
| ENST00000644447.1:c.1453C>T | ENSP00000496282.1:p.Leu485= | |
| ENST00000644484.1:c.*1352C>T | ENSP00000493558.1:n.*1352C>T | |
| ENST00000644542.1:c.*2802C>T | ENSP00000495532.1:n.*2802C>T | |
| ENST00000644675.1:c.*1269C>T | ENSP00000494567.1:n.*1269C>T | |
| ENST00000644757.1:c.*1382C>T | ENSP00000495085.1:n.*1382C>T | |
| ENST00000644772.1:c.3163C>T | ENSP00000494321.1:p.Leu1055= | |
| ENST00000645004.1:n.236C>T | ||
| ENST00000645076.1:c.2296C>T | ||
| ENST00000645417.1:c.263C>T | ||
| ENST00000645744.1:c.*1361C>T | ENSP00000494564.1:n.*1361C>T | |
| ENST00000645760.1:c.3372C>T | ||
| ENST00000645884.1:c.*234C>T | ENSP00000495516.1:n.*234C>T | |
| ENST00000646003.1:c.*1053C>T | ENSP00000495259.1:n.*1053C>T | |
| ENST00000646207.1:c.*1564C>T | ENSP00000495025.1:n.*1564C>T | |
| ENST00000646276.1:c.*1370C>T | ENSP00000496070.1:n.*1370C>T | |
| ENST00000646592.1:c.2403C>T | ||
| ENST00000646902.1:c.3094C>T | ENSP00000494101.1:p.Leu1032= | |
| ENST00000646993.1:c.*1493C>T | ENSP00000493720.1:n.*1493C>T | |
| ENST00000647013.1:c.3103C>T | ENSP00000496741.1:n.3103C>T | |
| ENST00000647015.1:c.2848C>T | ENSP00000495389.1:p.Leu950= | |
| ENST00000647086.1:c.*2827C>T | ENSP00000493677.1:n.*2827C>T | |
| ENST00000647158.1:c.*1238C>T | ENSP00000495744.1:n.*1238C>T | |
| ENST00000302539.8:c.3100C>T | ENSP00000303960.4:p.Leu1034= | |
| ENST00000389817.7:c.3097C>T | ENSP00000374467.3:p.Leu1033= | |
| ENST00000524561.1:n.229C>T | ||
| ENST00000526921.5:n.781C>T | ||
| ENST00000527905.5:c.2967C>T | ENSP00000431653.1:p.Gly989= | |
| ENST00000529967.5:n.766C>T | ||
| NM_000352.4:c.3097C>T | NP_000343.2:p.Leu1033= | |
| NM_001287174.1:c.3100C>T | NP_001274103.1:p.Leu1034= | |
| XM_011520331.1:c.3097C>T | XP_011518633.1:p.Leu1033= | |
| XM_011520332.1:c.3100C>T | XP_011518634.1:p.Leu1034= | |
| XM_011520333.1:c.1597C>T | XP_011518635.1:p.Leu533= | |
| XR_930890.1:n.3163C>T | ||
| XR_930891.1:n.3163C>T | ||
| XR_930892.1:n.3063C>T | ||
| XR_930893.1:n.3060C>T | ||
| NM_001351295.1:c.3163C>T | NP_001338224.1:p.Leu1055= | |
| NM_001351296.1:c.3097C>T | NP_001338225.1:p.Leu1033= | |
| NM_001351297.1:c.3094C>T | NP_001338226.1:p.Leu1032= | |
| NR_147094.1:n.3246C>T | ||
| XM_017018197.2:c.3166C>T | XP_016873686.1:p.Leu1056= | |
| XM_017018199.1:c.3163C>T | XP_016873688.1:p.Leu1055= | |
| XM_017018201.2:c.3166C>T | XP_016873690.1:p.Leu1056= | |
| XM_017018202.1:c.1663C>T | XP_016873691.1:p.Leu555= | |
| XM_017018204.1:c.1054C>T | XP_016873693.1:p.Leu352= | |
| XM_024448668.1:c.1465C>T | XP_024304436.1:p.Leu489= | |
| XR_001747945.2:n.3238C>T | ||
| XR_001747946.2:n.3169C>T | ||
| XR_002957189.1:n.3318C>T | ||
| NM_000352.6:c.3097C>T MANE Select | NP_000343.2:p.Leu1033= | |
| NM_001287174.2:c.3100C>T | NP_001274103.1:p.Leu1034= | |
| NM_001351295.2:c.3163C>T | NP_001338224.1:p.Leu1055= | |
| NM_001351296.2:c.3097C>T | NP_001338225.1:p.Leu1033= | |
| NM_001351297.2:c.3094C>T | NP_001338226.1:p.Leu1032= | |
| NR_147094.2:n.3246C>T | ||
| NM_001287174.3:c.3100C>T | NP_001274103.1:p.Leu1034= |