Linked Data
ClinVar Variation Id:
795473
dbSNP Id:
rs372257088
ExAC:
11:17426177 G / A
gnomAD v2:
11-17426177-G-A
gnomAD v3:
11-17404630-G-A
gnomAD v4:
11-17404630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404630G>A , CM000673.2:g.17404630G>A | GRCh38 |
| NC_000011.9:g.17426177G>A , CM000673.1:g.17426177G>A | GRCh37 |
| NC_000011.8:g.17382753G>A | NCBI36 |
| NG_008867.1:g.77273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3008C>T | ||
| ENST00000528374.2:c.18C>T | ||
| ENST00000529967.6:n.1778C>T | ||
| ENST00000532220.2:n.1171C>T | ||
| ENST00000642611.2:n.3508C>T | ||
| ENST00000645004.2:n.938C>T | ||
| ENST00000682051.1:n.3455C>T | ||
| ENST00000682110.1:n.3508C>T | ||
| ENST00000682140.1:c.3436C>T | ENSP00000507829.1:p.Leu1146= | |
| ENST00000682185.1:n.4744C>T | ||
| ENST00000682204.1:c.*1577C>T | ENSP00000507094.1:n.*1577C>T | |
| ENST00000682215.1:n.3505C>T | ||
| ENST00000682288.1:c.*1870C>T | ENSP00000507506.1:n.*1870C>T | |
| ENST00000682442.1:n.3728C>T | ||
| ENST00000682528.1:n.3585C>T | ||
| ENST00000682673.1:n.3452C>T | ||
| ENST00000682805.1:n.3505C>T | ||
| ENST00000682965.1:c.3396+864C>T | ENSP00000508229.1:n.3396+864C>T | |
| ENST00000683093.1:n.3607C>T | ||
| ENST00000683136.1:c.3436C>T | ENSP00000507768.1:p.Leu1146= | |
| ENST00000683153.1:n.3664C>T | ||
| ENST00000683365.1:n.3610C>T | ||
| ENST00000683377.1:n.3508C>T | ||
| ENST00000683456.1:c.*576C>T | ENSP00000508318.1:n.*576C>T | |
| ENST00000683522.1:n.3508C>T | ||
| ENST00000683562.1:c.*1608C>T | ENSP00000508265.1:n.*1608C>T | |
| ENST00000683693.1:n.3585C>T | ||
| ENST00000683725.1:c.3439C>T | ENSP00000507496.1:p.Leu1147= | |
| ENST00000684010.1:n.3503C>T | ||
| ENST00000684157.1:n.3508C>T | ||
| ENST00000684253.1:n.3411C>T | ||
| ENST00000684288.1:c.*1611C>T | ENSP00000507143.1:n.*1611C>T | |
| ENST00000684313.1:n.2940C>T | ||
| ENST00000684332.1:n.3581C>T | ||
| ENST00000684371.1:n.3614C>T | ||
| ENST00000684404.1:n.3551C>T | ||
| ENST00000684442.1:n.3508C>T | ||
| ENST00000684555.1:c.*1651C>T | ENSP00000507705.1:n.*1651C>T | |
| ENST00000684571.1:c.3280C>T | ENSP00000506935.1:p.Leu1094= | |
| ENST00000684593.1:c.*3144C>T | ENSP00000507005.1:n.*3144C>T | |
| ENST00000684711.1:c.*1835C>T | ENSP00000506841.1:n.*1835C>T | |
| ENST00000302539.9:c.3442C>T | ENSP00000303960.4:p.Leu1148= | |
| ENST00000389817.8:c.3439C>T MANE Select | ENSP00000374467.4:p.Leu1147= | |
| ENST00000642271.1:c.3436C>T | ENSP00000493749.1:p.Leu1146= | |
| ENST00000642579.1:c.1523C>T | ||
| ENST00000642611.1:n.3393C>T | ||
| ENST00000642902.1:c.3221C>T | ||
| ENST00000643260.1:c.3439C>T | ENSP00000494450.1:p.Leu1147= | |
| ENST00000643562.1:c.*1415C>T | ENSP00000496124.1:n.*1415C>T | |
| ENST00000643925.1:c.1563C>T | ||
| ENST00000644447.1:c.1795C>T | ENSP00000496282.1:p.Leu599= | |
| ENST00000644484.1:c.*1694C>T | ENSP00000493558.1:n.*1694C>T | |
| ENST00000644675.1:c.*1611C>T | ENSP00000494567.1:n.*1611C>T | |
| ENST00000644757.1:c.*1724C>T | ENSP00000495085.1:n.*1724C>T | |
| ENST00000644772.1:c.3505C>T | ENSP00000494321.1:p.Leu1169= | |
| ENST00000645004.1:n.578C>T | ||
| ENST00000645076.1:c.2638C>T | ||
| ENST00000645417.1:c.605C>T | ||
| ENST00000645744.1:c.*1703C>T | ENSP00000494564.1:n.*1703C>T | |
| ENST00000645760.1:c.3714C>T | ||
| ENST00000645884.1:c.*576C>T | ENSP00000495516.1:n.*576C>T | |
| ENST00000646003.1:c.*1395C>T | ENSP00000495259.1:n.*1395C>T | |
| ENST00000646207.1:c.*1906C>T | ENSP00000495025.1:n.*1906C>T | |
| ENST00000646276.1:c.*1712C>T | ENSP00000496070.1:n.*1712C>T | |
| ENST00000646592.1:c.2745C>T | ||
| ENST00000646902.1:c.3436C>T | ENSP00000494101.1:p.Leu1146= | |
| ENST00000646993.1:c.*1835C>T | ENSP00000493720.1:n.*1835C>T | |
| ENST00000647013.1:c.3445C>T | ENSP00000496741.1:n.3445C>T | |
| ENST00000647015.1:c.3190C>T | ENSP00000495389.1:p.Leu1064= | |
| ENST00000647086.1:c.*3169C>T | ENSP00000493677.1:n.*3169C>T | |
| ENST00000647158.1:c.*1580C>T | ENSP00000495744.1:n.*1580C>T | |
| ENST00000302539.8:c.3442C>T | ENSP00000303960.4:p.Leu1148= | |
| ENST00000389817.7:c.3439C>T | ENSP00000374467.3:p.Leu1147= | |
| ENST00000524561.1:n.571C>T | ||
| ENST00000527905.5:c.*315C>T | ENSP00000431653.1:n.*315C>T | |
| NM_000352.4:c.3439C>T | NP_000343.2:p.Leu1147= | |
| NM_001287174.1:c.3442C>T | NP_001274103.1:p.Leu1148= | |
| XM_011520331.1:c.3439C>T | XP_011518633.1:p.Leu1147= | |
| XM_011520332.1:c.3442C>T | XP_011518634.1:p.Leu1148= | |
| XM_011520333.1:c.1939C>T | XP_011518635.1:p.Leu647= | |
| XR_930890.1:n.3505C>T | ||
| XR_930892.1:n.3405C>T | ||
| XR_930893.1:n.3402C>T | ||
| NM_001351295.1:c.3505C>T | NP_001338224.1:p.Leu1169= | |
| NM_001351296.1:c.3439C>T | NP_001338225.1:p.Leu1147= | |
| NM_001351297.1:c.3436C>T | NP_001338226.1:p.Leu1146= | |
| NR_147094.1:n.3588C>T | ||
| XM_017018197.2:c.3508C>T | XP_016873686.1:p.Leu1170= | |
| XM_017018199.1:c.3505C>T | XP_016873688.1:p.Leu1169= | |
| XM_017018201.2:c.3508C>T | XP_016873690.1:p.Leu1170= | |
| XM_017018202.1:c.2005C>T | XP_016873691.1:p.Leu669= | |
| XM_017018204.1:c.1396C>T | XP_016873693.1:p.Leu466= | |
| XM_024448668.1:c.1807C>T | XP_024304436.1:p.Leu603= | |
| XR_001747945.2:n.3580C>T | ||
| XR_001747946.2:n.3511C>T | ||
| XR_002957189.1:n.3660C>T | ||
| NM_000352.6:c.3439C>T MANE Select | NP_000343.2:p.Leu1147= | |
| NM_001287174.2:c.3442C>T | NP_001274103.1:p.Leu1148= | |
| NM_001351295.2:c.3505C>T | NP_001338224.1:p.Leu1169= | |
| NM_001351296.2:c.3439C>T | NP_001338225.1:p.Leu1147= | |
| NM_001351297.2:c.3436C>T | NP_001338226.1:p.Leu1146= | |
| NR_147094.2:n.3588C>T | ||
| NM_001287174.3:c.3442C>T | NP_001274103.1:p.Leu1148= |