Linked Data
ClinVar Variation Id:
446769
dbSNP Id:
rs1354859002
gnomAD v3:
11-17404614-G-A
gnomAD v4:
11-17404614-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404614G>A , CM000673.2:g.17404614G>A | GRCh38 |
| NC_000011.9:g.17426161G>A , CM000673.1:g.17426161G>A | GRCh37 |
| NC_000011.8:g.17382737G>A | NCBI36 |
| NG_008867.1:g.77289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3024C>T | ||
| ENST00000528374.2:c.34C>T | ||
| ENST00000529967.6:n.1794C>T | ||
| ENST00000532220.2:n.1187C>T | ||
| ENST00000642611.2:n.3524C>T | ||
| ENST00000645004.2:n.954C>T | ||
| ENST00000682051.1:n.3471C>T | ||
| ENST00000682110.1:n.3524C>T | ||
| ENST00000682140.1:c.3452C>T | ENSP00000507829.1:p.Ala1151Val | |
| ENST00000682185.1:n.4760C>T | ||
| ENST00000682204.1:c.*1593C>T | ENSP00000507094.1:n.*1593C>T | |
| ENST00000682215.1:n.3521C>T | ||
| ENST00000682288.1:c.*1886C>T | ENSP00000507506.1:n.*1886C>T | |
| ENST00000682442.1:n.3744C>T | ||
| ENST00000682528.1:n.3601C>T | ||
| ENST00000682673.1:n.3468C>T | ||
| ENST00000682805.1:n.3521C>T | ||
| ENST00000682965.1:c.3396+880C>T | ENSP00000508229.1:n.3396+880C>T | |
| ENST00000683093.1:n.3623C>T | ||
| ENST00000683136.1:c.3452C>T | ENSP00000507768.1:p.Ala1151Val | |
| ENST00000683153.1:n.3680C>T | ||
| ENST00000683365.1:n.3626C>T | ||
| ENST00000683377.1:n.3524C>T | ||
| ENST00000683456.1:c.*592C>T | ENSP00000508318.1:n.*592C>T | |
| ENST00000683522.1:n.3524C>T | ||
| ENST00000683562.1:c.*1624C>T | ENSP00000508265.1:n.*1624C>T | |
| ENST00000683693.1:n.3601C>T | ||
| ENST00000683725.1:c.3455C>T | ENSP00000507496.1:p.Ala1152Val | |
| ENST00000684010.1:n.3519C>T | ||
| ENST00000684157.1:n.3524C>T | ||
| ENST00000684253.1:n.3427C>T | ||
| ENST00000684288.1:c.*1627C>T | ENSP00000507143.1:n.*1627C>T | |
| ENST00000684313.1:n.2956C>T | ||
| ENST00000684332.1:n.3597C>T | ||
| ENST00000684371.1:n.3630C>T | ||
| ENST00000684404.1:n.3567C>T | ||
| ENST00000684442.1:n.3524C>T | ||
| ENST00000684555.1:c.*1667C>T | ENSP00000507705.1:n.*1667C>T | |
| ENST00000684571.1:c.3296C>T | ENSP00000506935.1:p.Ala1099Val | |
| ENST00000684593.1:c.*3160C>T | ENSP00000507005.1:n.*3160C>T | |
| ENST00000684711.1:c.*1851C>T | ENSP00000506841.1:n.*1851C>T | |
| ENST00000302539.9:c.3458C>T | ENSP00000303960.4:p.Ala1153Val | |
| ENST00000389817.8:c.3455C>T MANE Select | ENSP00000374467.4:p.Ala1152Val | |
| ENST00000642271.1:c.3452C>T | ENSP00000493749.1:p.Ala1151Val | |
| ENST00000642579.1:c.1539C>T | ||
| ENST00000642611.1:n.3409C>T | ||
| ENST00000642902.1:c.3237C>T | ||
| ENST00000643260.1:c.3455C>T | ENSP00000494450.1:p.Ala1152Val | |
| ENST00000643562.1:c.*1431C>T | ENSP00000496124.1:n.*1431C>T | |
| ENST00000643925.1:c.1579C>T | ||
| ENST00000644447.1:c.1811C>T | ENSP00000496282.1:p.Ala604Val | |
| ENST00000644484.1:c.*1710C>T | ENSP00000493558.1:n.*1710C>T | |
| ENST00000644675.1:c.*1627C>T | ENSP00000494567.1:n.*1627C>T | |
| ENST00000644757.1:c.*1740C>T | ENSP00000495085.1:n.*1740C>T | |
| ENST00000644772.1:c.3521C>T | ENSP00000494321.1:p.Ala1174Val | |
| ENST00000645004.1:n.594C>T | ||
| ENST00000645076.1:c.2654C>T | ||
| ENST00000645417.1:c.621C>T | ||
| ENST00000645744.1:c.*1719C>T | ENSP00000494564.1:n.*1719C>T | |
| ENST00000645760.1:c.3730C>T | ||
| ENST00000645884.1:c.*592C>T | ENSP00000495516.1:n.*592C>T | |
| ENST00000646003.1:c.*1411C>T | ENSP00000495259.1:n.*1411C>T | |
| ENST00000646207.1:c.*1922C>T | ENSP00000495025.1:n.*1922C>T | |
| ENST00000646276.1:c.*1728C>T | ENSP00000496070.1:n.*1728C>T | |
| ENST00000646592.1:c.2761C>T | ||
| ENST00000646902.1:c.3452C>T | ENSP00000494101.1:p.Ala1151Val | |
| ENST00000646993.1:c.*1851C>T | ENSP00000493720.1:n.*1851C>T | |
| ENST00000647013.1:c.3461C>T | ENSP00000496741.1:n.3461C>T | |
| ENST00000647015.1:c.3206C>T | ENSP00000495389.1:p.Ala1069Val | |
| ENST00000647086.1:c.*3185C>T | ENSP00000493677.1:n.*3185C>T | |
| ENST00000647158.1:c.*1596C>T | ENSP00000495744.1:n.*1596C>T | |
| ENST00000302539.8:c.3458C>T | ENSP00000303960.4:p.Ala1153Val | |
| ENST00000389817.7:c.3455C>T | ENSP00000374467.3:p.Ala1152Val | |
| ENST00000524561.1:n.587C>T | ||
| ENST00000527905.5:c.*331C>T | ENSP00000431653.1:n.*331C>T | |
| NM_000352.4:c.3455C>T | NP_000343.2:p.Ala1152Val | |
| NM_001287174.1:c.3458C>T | NP_001274103.1:p.Ala1153Val | |
| XM_011520331.1:c.3455C>T | XP_011518633.1:p.Ala1152Val | |
| XM_011520332.1:c.3458C>T | XP_011518634.1:p.Ala1153Val | |
| XM_011520333.1:c.1955C>T | XP_011518635.1:p.Ala652Val | |
| XR_930890.1:n.3521C>T | ||
| XR_930892.1:n.3421C>T | ||
| XR_930893.1:n.3418C>T | ||
| NM_001351295.1:c.3521C>T | NP_001338224.1:p.Ala1174Val | |
| NM_001351296.1:c.3455C>T | NP_001338225.1:p.Ala1152Val | |
| NM_001351297.1:c.3452C>T | NP_001338226.1:p.Ala1151Val | |
| NR_147094.1:n.3604C>T | ||
| XM_017018197.2:c.3524C>T | XP_016873686.1:p.Ala1175Val | |
| XM_017018199.1:c.3521C>T | XP_016873688.1:p.Ala1174Val | |
| XM_017018201.2:c.3524C>T | XP_016873690.1:p.Ala1175Val | |
| XM_017018202.1:c.2021C>T | XP_016873691.1:p.Ala674Val | |
| XM_017018204.1:c.1412C>T | XP_016873693.1:p.Ala471Val | |
| XM_024448668.1:c.1823C>T | XP_024304436.1:p.Ala608Val | |
| XR_001747945.2:n.3596C>T | ||
| XR_001747946.2:n.3527C>T | ||
| XR_002957189.1:n.3676C>T | ||
| NM_000352.6:c.3455C>T MANE Select | NP_000343.2:p.Ala1152Val | |
| NM_001287174.2:c.3458C>T | NP_001274103.1:p.Ala1153Val | |
| NM_001351295.2:c.3521C>T | NP_001338224.1:p.Ala1174Val | |
| NM_001351296.2:c.3455C>T | NP_001338225.1:p.Ala1152Val | |
| NM_001351297.2:c.3452C>T | NP_001338226.1:p.Ala1151Val | |
| NR_147094.2:n.3604C>T | ||
| NM_001287174.3:c.3458C>T | NP_001274103.1:p.Ala1153Val |