Linked Data
ClinVar Variation Id:
804491
dbSNP Id:
rs201351976
ExAC:
11:17426203 G / A
gnomAD v2:
11-17426203-G-A
gnomAD v3:
11-17404656-G-A
gnomAD v4:
11-17404656-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404656G>A , CM000673.2:g.17404656G>A | GRCh38 |
| NC_000011.9:g.17426203G>A , CM000673.1:g.17426203G>A | GRCh37 |
| NC_000011.8:g.17382779G>A | NCBI36 |
| NG_008867.1:g.77247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2982C>T | ||
| ENST00000529967.6:n.1752C>T | ||
| ENST00000532220.2:n.1145C>T | ||
| ENST00000642611.2:n.3482C>T | ||
| ENST00000645004.2:n.912C>T | ||
| ENST00000682051.1:n.3429C>T | ||
| ENST00000682110.1:n.3482C>T | ||
| ENST00000682140.1:c.3410C>T | ENSP00000507829.1:p.Thr1137Met | |
| ENST00000682185.1:n.4718C>T | ||
| ENST00000682204.1:c.*1551C>T | ENSP00000507094.1:n.*1551C>T | |
| ENST00000682215.1:n.3479C>T | ||
| ENST00000682288.1:c.*1844C>T | ENSP00000507506.1:n.*1844C>T | |
| ENST00000682442.1:n.3702C>T | ||
| ENST00000682528.1:n.3559C>T | ||
| ENST00000682673.1:n.3426C>T | ||
| ENST00000682805.1:n.3479C>T | ||
| ENST00000682965.1:c.3396+838C>T | ENSP00000508229.1:n.3396+838C>T | |
| ENST00000683093.1:n.3581C>T | ||
| ENST00000683136.1:c.3410C>T | ENSP00000507768.1:p.Thr1137Met | |
| ENST00000683153.1:n.3638C>T | ||
| ENST00000683365.1:n.3584C>T | ||
| ENST00000683377.1:n.3482C>T | ||
| ENST00000683456.1:c.*550C>T | ENSP00000508318.1:n.*550C>T | |
| ENST00000683522.1:n.3482C>T | ||
| ENST00000683562.1:c.*1582C>T | ENSP00000508265.1:n.*1582C>T | |
| ENST00000683693.1:n.3559C>T | ||
| ENST00000683725.1:c.3413C>T | ENSP00000507496.1:p.Thr1138Met | |
| ENST00000684010.1:n.3477C>T | ||
| ENST00000684157.1:n.3482C>T | ||
| ENST00000684253.1:n.3385C>T | ||
| ENST00000684288.1:c.*1585C>T | ENSP00000507143.1:n.*1585C>T | |
| ENST00000684313.1:n.2914C>T | ||
| ENST00000684332.1:n.3555C>T | ||
| ENST00000684371.1:n.3588C>T | ||
| ENST00000684404.1:n.3525C>T | ||
| ENST00000684442.1:n.3482C>T | ||
| ENST00000684555.1:c.*1625C>T | ENSP00000507705.1:n.*1625C>T | |
| ENST00000684571.1:c.3254C>T | ENSP00000506935.1:p.Thr1085Met | |
| ENST00000684593.1:c.*3118C>T | ENSP00000507005.1:n.*3118C>T | |
| ENST00000684711.1:c.*1809C>T | ENSP00000506841.1:n.*1809C>T | |
| ENST00000302539.9:c.3416C>T | ENSP00000303960.4:p.Thr1139Met | |
| ENST00000389817.8:c.3413C>T MANE Select | ENSP00000374467.4:p.Thr1138Met | |
| ENST00000642271.1:c.3410C>T | ENSP00000493749.1:p.Thr1137Met | |
| ENST00000642579.1:c.1497C>T | ||
| ENST00000642611.1:n.3367C>T | ||
| ENST00000642902.1:c.3195C>T | ||
| ENST00000643260.1:c.3413C>T | ENSP00000494450.1:p.Thr1138Met | |
| ENST00000643562.1:c.*1389C>T | ENSP00000496124.1:n.*1389C>T | |
| ENST00000643925.1:c.1537C>T | ||
| ENST00000644447.1:c.1769C>T | ENSP00000496282.1:p.Thr590Met | |
| ENST00000644484.1:c.*1668C>T | ENSP00000493558.1:n.*1668C>T | |
| ENST00000644675.1:c.*1585C>T | ENSP00000494567.1:n.*1585C>T | |
| ENST00000644757.1:c.*1698C>T | ENSP00000495085.1:n.*1698C>T | |
| ENST00000644772.1:c.3479C>T | ENSP00000494321.1:p.Thr1160Met | |
| ENST00000645004.1:n.552C>T | ||
| ENST00000645076.1:c.2612C>T | ||
| ENST00000645417.1:c.579C>T | ||
| ENST00000645744.1:c.*1677C>T | ENSP00000494564.1:n.*1677C>T | |
| ENST00000645760.1:c.3688C>T | ||
| ENST00000645884.1:c.*550C>T | ENSP00000495516.1:n.*550C>T | |
| ENST00000646003.1:c.*1369C>T | ENSP00000495259.1:n.*1369C>T | |
| ENST00000646207.1:c.*1880C>T | ENSP00000495025.1:n.*1880C>T | |
| ENST00000646276.1:c.*1686C>T | ENSP00000496070.1:n.*1686C>T | |
| ENST00000646592.1:c.2719C>T | ||
| ENST00000646902.1:c.3410C>T | ENSP00000494101.1:p.Thr1137Met | |
| ENST00000646993.1:c.*1809C>T | ENSP00000493720.1:n.*1809C>T | |
| ENST00000647013.1:c.3419C>T | ENSP00000496741.1:n.3419C>T | |
| ENST00000647015.1:c.3164C>T | ENSP00000495389.1:p.Thr1055Met | |
| ENST00000647086.1:c.*3143C>T | ENSP00000493677.1:n.*3143C>T | |
| ENST00000647158.1:c.*1554C>T | ENSP00000495744.1:n.*1554C>T | |
| ENST00000302539.8:c.3416C>T | ENSP00000303960.4:p.Thr1139Met | |
| ENST00000389817.7:c.3413C>T | ENSP00000374467.3:p.Thr1138Met | |
| ENST00000524561.1:n.545C>T | ||
| ENST00000527905.5:c.*289C>T | ENSP00000431653.1:n.*289C>T | |
| NM_000352.4:c.3413C>T | NP_000343.2:p.Thr1138Met | |
| NM_001287174.1:c.3416C>T | NP_001274103.1:p.Thr1139Met | |
| XM_011520331.1:c.3413C>T | XP_011518633.1:p.Thr1138Met | |
| XM_011520332.1:c.3416C>T | XP_011518634.1:p.Thr1139Met | |
| XM_011520333.1:c.1913C>T | XP_011518635.1:p.Thr638Met | |
| XR_930890.1:n.3479C>T | ||
| XR_930891.1:n.3480C>T | ||
| XR_930892.1:n.3379C>T | ||
| XR_930893.1:n.3376C>T | ||
| NM_001351295.1:c.3479C>T | NP_001338224.1:p.Thr1160Met | |
| NM_001351296.1:c.3413C>T | NP_001338225.1:p.Thr1138Met | |
| NM_001351297.1:c.3410C>T | NP_001338226.1:p.Thr1137Met | |
| NR_147094.1:n.3562C>T | ||
| XM_017018197.2:c.3482C>T | XP_016873686.1:p.Thr1161Met | |
| XM_017018199.1:c.3479C>T | XP_016873688.1:p.Thr1160Met | |
| XM_017018201.2:c.3482C>T | XP_016873690.1:p.Thr1161Met | |
| XM_017018202.1:c.1979C>T | XP_016873691.1:p.Thr660Met | |
| XM_017018204.1:c.1370C>T | XP_016873693.1:p.Thr457Met | |
| XM_024448668.1:c.1781C>T | XP_024304436.1:p.Thr594Met | |
| XR_001747945.2:n.3554C>T | ||
| XR_001747946.2:n.3485C>T | ||
| XR_002957189.1:n.3634C>T | ||
| NM_000352.6:c.3413C>T MANE Select | NP_000343.2:p.Thr1138Met | |
| NM_001287174.2:c.3416C>T | NP_001274103.1:p.Thr1139Met | |
| NM_001351295.2:c.3479C>T | NP_001338224.1:p.Thr1160Met | |
| NM_001351296.2:c.3413C>T | NP_001338225.1:p.Thr1138Met | |
| NM_001351297.2:c.3410C>T | NP_001338226.1:p.Thr1137Met | |
| NR_147094.2:n.3562C>T | ||
| NM_001287174.3:c.3416C>T | NP_001274103.1:p.Thr1139Met |