Linked Data
ClinVar Variation Id:
792576
dbSNP Id:
rs778240883
ExAC:
11:17428324 G / A
gnomAD v2:
11-17428324-G-A
gnomAD v4:
11-17406777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406777G>A , CM000673.2:g.17406777G>A | GRCh38 |
| NC_000011.9:g.17428324G>A , CM000673.1:g.17428324G>A | GRCh37 |
| NC_000011.8:g.17384900G>A | NCBI36 |
| NG_008867.1:g.75126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2743C>T | ||
| ENST00000529967.6:n.1513C>T | ||
| ENST00000532220.2:n.906C>T | ||
| ENST00000642611.2:n.3243C>T | ||
| ENST00000645004.2:n.673C>T | ||
| ENST00000682051.1:n.3190C>T | ||
| ENST00000682110.1:n.3243C>T | ||
| ENST00000682140.1:c.3171C>T | ENSP00000507829.1:p.Leu1057= | |
| ENST00000682185.1:n.4479C>T | ||
| ENST00000682204.1:c.*1312C>T | ENSP00000507094.1:n.*1312C>T | |
| ENST00000682215.1:n.3240C>T | ||
| ENST00000682288.1:c.*1605C>T | ENSP00000507506.1:n.*1605C>T | |
| ENST00000682442.1:n.3463C>T | ||
| ENST00000682528.1:n.3320C>T | ||
| ENST00000682673.1:n.3187C>T | ||
| ENST00000682805.1:n.3240C>T | ||
| ENST00000682965.1:c.3171C>T | ENSP00000508229.1:p.Leu1057= | |
| ENST00000683093.1:n.3342C>T | ||
| ENST00000683136.1:c.3171C>T | ENSP00000507768.1:p.Leu1057= | |
| ENST00000683153.1:n.3399C>T | ||
| ENST00000683365.1:n.3345C>T | ||
| ENST00000683377.1:n.3243C>T | ||
| ENST00000683456.1:c.*311C>T | ENSP00000508318.1:n.*311C>T | |
| ENST00000683522.1:n.3243C>T | ||
| ENST00000683562.1:c.*1343C>T | ENSP00000508265.1:n.*1343C>T | |
| ENST00000683693.1:n.3320C>T | ||
| ENST00000683725.1:c.3174C>T | ENSP00000507496.1:p.Leu1058= | |
| ENST00000684010.1:n.3238C>T | ||
| ENST00000684157.1:n.3243C>T | ||
| ENST00000684253.1:n.3146C>T | ||
| ENST00000684288.1:c.*1346C>T | ENSP00000507143.1:n.*1346C>T | |
| ENST00000684313.1:n.2675C>T | ||
| ENST00000684332.1:n.3316C>T | ||
| ENST00000684371.1:n.3349C>T | ||
| ENST00000684404.1:n.3286C>T | ||
| ENST00000684442.1:n.3243C>T | ||
| ENST00000684555.1:c.*1386C>T | ENSP00000507705.1:n.*1386C>T | |
| ENST00000684571.1:c.3015C>T | ENSP00000506935.1:p.Leu1005= | |
| ENST00000684593.1:c.*2879C>T | ENSP00000507005.1:n.*2879C>T | |
| ENST00000684711.1:c.*1570C>T | ENSP00000506841.1:n.*1570C>T | |
| ENST00000302539.9:c.3177C>T | ENSP00000303960.4:p.Leu1059= | |
| ENST00000389817.8:c.3174C>T MANE Select | ENSP00000374467.4:p.Leu1058= | |
| ENST00000642271.1:c.3171C>T | ENSP00000493749.1:p.Leu1057= | |
| ENST00000642579.1:c.1258C>T | ||
| ENST00000642611.1:n.3128C>T | ||
| ENST00000642902.1:c.2956C>T | ||
| ENST00000643260.1:c.3174C>T | ENSP00000494450.1:p.Leu1058= | |
| ENST00000643562.1:c.*1150C>T | ENSP00000496124.1:n.*1150C>T | |
| ENST00000643925.1:c.1298C>T | ||
| ENST00000644447.1:c.1530C>T | ENSP00000496282.1:p.Leu510= | |
| ENST00000644484.1:c.*1429C>T | ENSP00000493558.1:n.*1429C>T | |
| ENST00000644542.1:c.*2978C>T | ENSP00000495532.1:n.*2978C>T | |
| ENST00000644675.1:c.*1346C>T | ENSP00000494567.1:n.*1346C>T | |
| ENST00000644757.1:c.*1459C>T | ENSP00000495085.1:n.*1459C>T | |
| ENST00000644772.1:c.3240C>T | ENSP00000494321.1:p.Leu1080= | |
| ENST00000645004.1:n.313C>T | ||
| ENST00000645076.1:c.2373C>T | ||
| ENST00000645417.1:c.340C>T | ||
| ENST00000645744.1:c.*1438C>T | ENSP00000494564.1:n.*1438C>T | |
| ENST00000645760.1:c.3449C>T | ||
| ENST00000645884.1:c.*311C>T | ENSP00000495516.1:n.*311C>T | |
| ENST00000646003.1:c.*1130C>T | ENSP00000495259.1:n.*1130C>T | |
| ENST00000646207.1:c.*1641C>T | ENSP00000495025.1:n.*1641C>T | |
| ENST00000646276.1:c.*1447C>T | ENSP00000496070.1:n.*1447C>T | |
| ENST00000646592.1:c.2480C>T | ||
| ENST00000646902.1:c.3171C>T | ENSP00000494101.1:p.Leu1057= | |
| ENST00000646993.1:c.*1570C>T | ENSP00000493720.1:n.*1570C>T | |
| ENST00000647013.1:c.3180C>T | ENSP00000496741.1:n.3180C>T | |
| ENST00000647015.1:c.2925C>T | ENSP00000495389.1:p.Leu975= | |
| ENST00000647086.1:c.*2904C>T | ENSP00000493677.1:n.*2904C>T | |
| ENST00000647158.1:c.*1315C>T | ENSP00000495744.1:n.*1315C>T | |
| ENST00000302539.8:c.3177C>T | ENSP00000303960.4:p.Leu1059= | |
| ENST00000389817.7:c.3174C>T | ENSP00000374467.3:p.Leu1058= | |
| ENST00000524561.1:n.306C>T | ||
| ENST00000526921.5:n.858C>T | ||
| ENST00000527905.5:c.*50C>T | ENSP00000431653.1:n.*50C>T | |
| NM_000352.4:c.3174C>T | NP_000343.2:p.Leu1058= | |
| NM_001287174.1:c.3177C>T | NP_001274103.1:p.Leu1059= | |
| XM_011520331.1:c.3174C>T | XP_011518633.1:p.Leu1058= | |
| XM_011520332.1:c.3177C>T | XP_011518634.1:p.Leu1059= | |
| XM_011520333.1:c.1674C>T | XP_011518635.1:p.Leu558= | |
| XR_930890.1:n.3240C>T | ||
| XR_930891.1:n.3240C>T | ||
| XR_930892.1:n.3140C>T | ||
| XR_930893.1:n.3137C>T | ||
| NM_001351295.1:c.3240C>T | NP_001338224.1:p.Leu1080= | |
| NM_001351296.1:c.3174C>T | NP_001338225.1:p.Leu1058= | |
| NM_001351297.1:c.3171C>T | NP_001338226.1:p.Leu1057= | |
| NR_147094.1:n.3323C>T | ||
| XM_017018197.2:c.3243C>T | XP_016873686.1:p.Leu1081= | |
| XM_017018199.1:c.3240C>T | XP_016873688.1:p.Leu1080= | |
| XM_017018201.2:c.3243C>T | XP_016873690.1:p.Leu1081= | |
| XM_017018202.1:c.1740C>T | XP_016873691.1:p.Leu580= | |
| XM_017018204.1:c.1131C>T | XP_016873693.1:p.Leu377= | |
| XM_024448668.1:c.1542C>T | XP_024304436.1:p.Leu514= | |
| XR_001747945.2:n.3315C>T | ||
| XR_001747946.2:n.3246C>T | ||
| XR_002957189.1:n.3395C>T | ||
| NM_000352.6:c.3174C>T MANE Select | NP_000343.2:p.Leu1058= | |
| NM_001287174.2:c.3177C>T | NP_001274103.1:p.Leu1059= | |
| NM_001351295.2:c.3240C>T | NP_001338224.1:p.Leu1080= | |
| NM_001351296.2:c.3174C>T | NP_001338225.1:p.Leu1058= | |
| NM_001351297.2:c.3171C>T | NP_001338226.1:p.Leu1057= | |
| NR_147094.2:n.3323C>T | ||
| NM_001287174.3:c.3177C>T | NP_001274103.1:p.Leu1059= |