Linked Data
ClinVar Variation Id:
1645695
ClinVar RCV Id:
RCV002148647
dbSNP Id:
rs888495082
gnomAD v3:
11-17406714-G-A
gnomAD v4:
11-17406714-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406714G>A , CM000673.2:g.17406714G>A | GRCh38 |
| NC_000011.9:g.17428261G>A , CM000673.1:g.17428261G>A | GRCh37 |
| NC_000011.8:g.17384837G>A | NCBI36 |
| NG_008867.1:g.75189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2806C>T | ||
| ENST00000529967.6:n.1576C>T | ||
| ENST00000532220.2:n.969C>T | ||
| ENST00000642611.2:n.3306C>T | ||
| ENST00000645004.2:n.736C>T | ||
| ENST00000682051.1:n.3253C>T | ||
| ENST00000682110.1:n.3306C>T | ||
| ENST00000682140.1:c.3234C>T | ENSP00000507829.1:p.Leu1078= | |
| ENST00000682185.1:n.4542C>T | ||
| ENST00000682204.1:c.*1375C>T | ENSP00000507094.1:n.*1375C>T | |
| ENST00000682215.1:n.3303C>T | ||
| ENST00000682288.1:c.*1668C>T | ENSP00000507506.1:n.*1668C>T | |
| ENST00000682442.1:n.3526C>T | ||
| ENST00000682528.1:n.3383C>T | ||
| ENST00000682673.1:n.3250C>T | ||
| ENST00000682805.1:n.3303C>T | ||
| ENST00000682965.1:c.3234C>T | ENSP00000508229.1:p.Leu1078= | |
| ENST00000683093.1:n.3405C>T | ||
| ENST00000683136.1:c.3234C>T | ENSP00000507768.1:p.Leu1078= | |
| ENST00000683153.1:n.3462C>T | ||
| ENST00000683365.1:n.3408C>T | ||
| ENST00000683377.1:n.3306C>T | ||
| ENST00000683456.1:c.*374C>T | ENSP00000508318.1:n.*374C>T | |
| ENST00000683522.1:n.3306C>T | ||
| ENST00000683562.1:c.*1406C>T | ENSP00000508265.1:n.*1406C>T | |
| ENST00000683693.1:n.3383C>T | ||
| ENST00000683725.1:c.3237C>T | ENSP00000507496.1:p.Leu1079= | |
| ENST00000684010.1:n.3301C>T | ||
| ENST00000684157.1:n.3306C>T | ||
| ENST00000684253.1:n.3209C>T | ||
| ENST00000684288.1:c.*1409C>T | ENSP00000507143.1:n.*1409C>T | |
| ENST00000684313.1:n.2738C>T | ||
| ENST00000684332.1:n.3379C>T | ||
| ENST00000684371.1:n.3412C>T | ||
| ENST00000684404.1:n.3349C>T | ||
| ENST00000684442.1:n.3306C>T | ||
| ENST00000684555.1:c.*1449C>T | ENSP00000507705.1:n.*1449C>T | |
| ENST00000684571.1:c.3078C>T | ENSP00000506935.1:p.Leu1026= | |
| ENST00000684593.1:c.*2942C>T | ENSP00000507005.1:n.*2942C>T | |
| ENST00000684711.1:c.*1633C>T | ENSP00000506841.1:n.*1633C>T | |
| ENST00000302539.9:c.3240C>T | ENSP00000303960.4:p.Leu1080= | |
| ENST00000389817.8:c.3237C>T MANE Select | ENSP00000374467.4:p.Leu1079= | |
| ENST00000642271.1:c.3234C>T | ENSP00000493749.1:p.Leu1078= | |
| ENST00000642579.1:c.1321C>T | ||
| ENST00000642611.1:n.3191C>T | ||
| ENST00000642902.1:c.3019C>T | ||
| ENST00000643260.1:c.3237C>T | ENSP00000494450.1:p.Leu1079= | |
| ENST00000643562.1:c.*1213C>T | ENSP00000496124.1:n.*1213C>T | |
| ENST00000643925.1:c.1361C>T | ||
| ENST00000644447.1:c.1593C>T | ENSP00000496282.1:p.Leu531= | |
| ENST00000644484.1:c.*1492C>T | ENSP00000493558.1:n.*1492C>T | |
| ENST00000644542.1:c.*3041C>T | ENSP00000495532.1:n.*3041C>T | |
| ENST00000644675.1:c.*1409C>T | ENSP00000494567.1:n.*1409C>T | |
| ENST00000644757.1:c.*1522C>T | ENSP00000495085.1:n.*1522C>T | |
| ENST00000644772.1:c.3303C>T | ENSP00000494321.1:p.Leu1101= | |
| ENST00000645004.1:n.376C>T | ||
| ENST00000645076.1:c.2436C>T | ||
| ENST00000645417.1:c.403C>T | ||
| ENST00000645744.1:c.*1501C>T | ENSP00000494564.1:n.*1501C>T | |
| ENST00000645760.1:c.3512C>T | ||
| ENST00000645884.1:c.*374C>T | ENSP00000495516.1:n.*374C>T | |
| ENST00000646003.1:c.*1193C>T | ENSP00000495259.1:n.*1193C>T | |
| ENST00000646207.1:c.*1704C>T | ENSP00000495025.1:n.*1704C>T | |
| ENST00000646276.1:c.*1510C>T | ENSP00000496070.1:n.*1510C>T | |
| ENST00000646592.1:c.2543C>T | ||
| ENST00000646902.1:c.3234C>T | ENSP00000494101.1:p.Leu1078= | |
| ENST00000646993.1:c.*1633C>T | ENSP00000493720.1:n.*1633C>T | |
| ENST00000647013.1:c.3243C>T | ENSP00000496741.1:n.3243C>T | |
| ENST00000647015.1:c.2988C>T | ENSP00000495389.1:p.Leu996= | |
| ENST00000647086.1:c.*2967C>T | ENSP00000493677.1:n.*2967C>T | |
| ENST00000647158.1:c.*1378C>T | ENSP00000495744.1:n.*1378C>T | |
| ENST00000302539.8:c.3240C>T | ENSP00000303960.4:p.Leu1080= | |
| ENST00000389817.7:c.3237C>T | ENSP00000374467.3:p.Leu1079= | |
| ENST00000524561.1:n.369C>T | ||
| ENST00000526921.5:n.921C>T | ||
| ENST00000527905.5:c.*113C>T | ENSP00000431653.1:n.*113C>T | |
| NM_000352.4:c.3237C>T | NP_000343.2:p.Leu1079= | |
| NM_001287174.1:c.3240C>T | NP_001274103.1:p.Leu1080= | |
| XM_011520331.1:c.3237C>T | XP_011518633.1:p.Leu1079= | |
| XM_011520332.1:c.3240C>T | XP_011518634.1:p.Leu1080= | |
| XM_011520333.1:c.1737C>T | XP_011518635.1:p.Leu579= | |
| XR_930890.1:n.3303C>T | ||
| XR_930891.1:n.3303C>T | ||
| XR_930892.1:n.3203C>T | ||
| XR_930893.1:n.3200C>T | ||
| NM_001351295.1:c.3303C>T | NP_001338224.1:p.Leu1101= | |
| NM_001351296.1:c.3237C>T | NP_001338225.1:p.Leu1079= | |
| NM_001351297.1:c.3234C>T | NP_001338226.1:p.Leu1078= | |
| NR_147094.1:n.3386C>T | ||
| XM_017018197.2:c.3306C>T | XP_016873686.1:p.Leu1102= | |
| XM_017018199.1:c.3303C>T | XP_016873688.1:p.Leu1101= | |
| XM_017018201.2:c.3306C>T | XP_016873690.1:p.Leu1102= | |
| XM_017018202.1:c.1803C>T | XP_016873691.1:p.Leu601= | |
| XM_017018204.1:c.1194C>T | XP_016873693.1:p.Leu398= | |
| XM_024448668.1:c.1605C>T | XP_024304436.1:p.Leu535= | |
| XR_001747945.2:n.3378C>T | ||
| XR_001747946.2:n.3309C>T | ||
| XR_002957189.1:n.3458C>T | ||
| NM_000352.6:c.3237C>T MANE Select | NP_000343.2:p.Leu1079= | |
| NM_001287174.2:c.3240C>T | NP_001274103.1:p.Leu1080= | |
| NM_001351295.2:c.3303C>T | NP_001338224.1:p.Leu1101= | |
| NM_001351296.2:c.3237C>T | NP_001338225.1:p.Leu1079= | |
| NM_001351297.2:c.3234C>T | NP_001338226.1:p.Leu1078= | |
| NR_147094.2:n.3386C>T | ||
| NM_001287174.3:c.3240C>T | NP_001274103.1:p.Leu1080= |