Linked Data
ClinVar Variation Id:
585343
dbSNP Id:
rs755259997
ExAC:
11:17428490 C / T
gnomAD v2:
11-17428490-C-T
gnomAD v3:
11-17406943-C-T
gnomAD v4:
11-17406943-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406943C>T , CM000673.2:g.17406943C>T | GRCh38 |
| NC_000011.9:g.17428490C>T , CM000673.1:g.17428490C>T | GRCh37 |
| NC_000011.8:g.17385066C>T | NCBI36 |
| NG_008867.1:g.74960G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2676G>A | ||
| ENST00000529967.6:n.1446G>A | ||
| ENST00000532220.2:n.839G>A | ||
| ENST00000642611.2:n.3176G>A | ||
| ENST00000645004.2:n.606G>A | ||
| ENST00000682051.1:n.3123G>A | ||
| ENST00000682110.1:n.3176G>A | ||
| ENST00000682140.1:c.3104G>A | ENSP00000507829.1:p.Trp1035Ter | |
| ENST00000682185.1:n.4412G>A | ||
| ENST00000682204.1:c.*1245G>A | ENSP00000507094.1:n.*1245G>A | |
| ENST00000682215.1:n.3173G>A | ||
| ENST00000682288.1:c.*1538G>A | ENSP00000507506.1:n.*1538G>A | |
| ENST00000682442.1:n.3297G>A | ||
| ENST00000682528.1:n.3253G>A | ||
| ENST00000682673.1:n.3120G>A | ||
| ENST00000682805.1:n.3173G>A | ||
| ENST00000682965.1:c.3104G>A | ENSP00000508229.1:p.Trp1035Ter | |
| ENST00000683093.1:n.3275G>A | ||
| ENST00000683136.1:c.3104G>A | ENSP00000507768.1:p.Trp1035Ter | |
| ENST00000683153.1:n.3332G>A | ||
| ENST00000683365.1:n.3278G>A | ||
| ENST00000683377.1:n.3176G>A | ||
| ENST00000683456.1:c.*244G>A | ENSP00000508318.1:n.*244G>A | |
| ENST00000683522.1:n.3176G>A | ||
| ENST00000683562.1:c.*1276G>A | ENSP00000508265.1:n.*1276G>A | |
| ENST00000683693.1:n.3253G>A | ||
| ENST00000683725.1:c.3107G>A | ENSP00000507496.1:p.Trp1036Ter | |
| ENST00000684010.1:n.3171G>A | ||
| ENST00000684157.1:n.3176G>A | ||
| ENST00000684253.1:n.3079G>A | ||
| ENST00000684288.1:c.*1279G>A | ENSP00000507143.1:n.*1279G>A | |
| ENST00000684313.1:n.2608G>A | ||
| ENST00000684332.1:n.3249G>A | ||
| ENST00000684371.1:n.3282G>A | ||
| ENST00000684404.1:n.3219G>A | ||
| ENST00000684442.1:n.3176G>A | ||
| ENST00000684555.1:c.*1319G>A | ENSP00000507705.1:n.*1319G>A | |
| ENST00000684571.1:c.2948G>A | ENSP00000506935.1:p.Trp983Ter | |
| ENST00000684593.1:c.*2812G>A | ENSP00000507005.1:n.*2812G>A | |
| ENST00000684711.1:c.*1503G>A | ENSP00000506841.1:n.*1503G>A | |
| ENST00000302539.9:c.3110G>A | ENSP00000303960.4:p.Trp1037Ter | |
| ENST00000389817.8:c.3107G>A MANE Select | ENSP00000374467.4:p.Trp1036Ter | |
| ENST00000642271.1:c.3104G>A | ENSP00000493749.1:p.Trp1035Ter | |
| ENST00000642579.1:c.1191G>A | ||
| ENST00000642611.1:n.3061G>A | ||
| ENST00000642902.1:c.2889G>A | ||
| ENST00000643260.1:c.3107G>A | ENSP00000494450.1:p.Trp1036Ter | |
| ENST00000643562.1:c.*1083G>A | ENSP00000496124.1:n.*1083G>A | |
| ENST00000643925.1:c.1231G>A | ||
| ENST00000644447.1:c.1463G>A | ENSP00000496282.1:p.Trp488Ter | |
| ENST00000644484.1:c.*1362G>A | ENSP00000493558.1:n.*1362G>A | |
| ENST00000644542.1:c.*2812G>A | ENSP00000495532.1:n.*2812G>A | |
| ENST00000644675.1:c.*1279G>A | ENSP00000494567.1:n.*1279G>A | |
| ENST00000644757.1:c.*1392G>A | ENSP00000495085.1:n.*1392G>A | |
| ENST00000644772.1:c.3173G>A | ENSP00000494321.1:p.Trp1058Ter | |
| ENST00000645004.1:n.246G>A | ||
| ENST00000645076.1:c.2306G>A | ||
| ENST00000645417.1:c.273G>A | ||
| ENST00000645744.1:c.*1371G>A | ENSP00000494564.1:n.*1371G>A | |
| ENST00000645760.1:c.3382G>A | ||
| ENST00000645884.1:c.*244G>A | ENSP00000495516.1:n.*244G>A | |
| ENST00000646003.1:c.*1063G>A | ENSP00000495259.1:n.*1063G>A | |
| ENST00000646207.1:c.*1574G>A | ENSP00000495025.1:n.*1574G>A | |
| ENST00000646276.1:c.*1380G>A | ENSP00000496070.1:n.*1380G>A | |
| ENST00000646592.1:c.2413G>A | ||
| ENST00000646902.1:c.3104G>A | ENSP00000494101.1:p.Trp1035Ter | |
| ENST00000646993.1:c.*1503G>A | ENSP00000493720.1:n.*1503G>A | |
| ENST00000647013.1:c.3113G>A | ENSP00000496741.1:n.3113G>A | |
| ENST00000647015.1:c.2858G>A | ENSP00000495389.1:p.Trp953Ter | |
| ENST00000647086.1:c.*2837G>A | ENSP00000493677.1:n.*2837G>A | |
| ENST00000647158.1:c.*1248G>A | ENSP00000495744.1:n.*1248G>A | |
| ENST00000302539.8:c.3110G>A | ENSP00000303960.4:p.Trp1037Ter | |
| ENST00000389817.7:c.3107G>A | ENSP00000374467.3:p.Trp1036Ter | |
| ENST00000524561.1:n.239G>A | ||
| ENST00000526921.5:n.791G>A | ||
| ENST00000527905.5:c.2977G>A | ENSP00000431653.1:p.Gly993Arg | |
| ENST00000529967.5:n.776G>A | ||
| NM_000352.4:c.3107G>A | NP_000343.2:p.Trp1036Ter | |
| NM_001287174.1:c.3110G>A | NP_001274103.1:p.Trp1037Ter | |
| XM_011520331.1:c.3107G>A | XP_011518633.1:p.Trp1036Ter | |
| XM_011520332.1:c.3110G>A | XP_011518634.1:p.Trp1037Ter | |
| XM_011520333.1:c.1607G>A | XP_011518635.1:p.Trp536Ter | |
| XR_930890.1:n.3173G>A | ||
| XR_930891.1:n.3173G>A | ||
| XR_930892.1:n.3073G>A | ||
| XR_930893.1:n.3070G>A | ||
| NM_001351295.1:c.3173G>A | NP_001338224.1:p.Trp1058Ter | |
| NM_001351296.1:c.3107G>A | NP_001338225.1:p.Trp1036Ter | |
| NM_001351297.1:c.3104G>A | NP_001338226.1:p.Trp1035Ter | |
| NR_147094.1:n.3256G>A | ||
| XM_017018197.2:c.3176G>A | XP_016873686.1:p.Trp1059Ter | |
| XM_017018199.1:c.3173G>A | XP_016873688.1:p.Trp1058Ter | |
| XM_017018201.2:c.3176G>A | XP_016873690.1:p.Trp1059Ter | |
| XM_017018202.1:c.1673G>A | XP_016873691.1:p.Trp558Ter | |
| XM_017018204.1:c.1064G>A | XP_016873693.1:p.Trp355Ter | |
| XM_024448668.1:c.1475G>A | XP_024304436.1:p.Trp492Ter | |
| XR_001747945.2:n.3248G>A | ||
| XR_001747946.2:n.3179G>A | ||
| XR_002957189.1:n.3328G>A | ||
| NM_000352.6:c.3107G>A MANE Select | NP_000343.2:p.Trp1036Ter | |
| NM_001287174.2:c.3110G>A | NP_001274103.1:p.Trp1037Ter | |
| NM_001351295.2:c.3173G>A | NP_001338224.1:p.Trp1058Ter | |
| NM_001351296.2:c.3107G>A | NP_001338225.1:p.Trp1036Ter | |
| NM_001351297.2:c.3104G>A | NP_001338226.1:p.Trp1035Ter | |
| NR_147094.2:n.3256G>A | ||
| NM_001287174.3:c.3110G>A | NP_001274103.1:p.Trp1037Ter |