Linked Data
ClinVar Variation Id:
157691
ClinVar RCV Id:
RCV000144986
RCV000304886
RCV000364184
RCV000576603
RCV001277196
RCV001520135
RCV001533281
RCV001533280
RCV002226680
dbSNP Id:
rs1805036
ExAC:
11:17434284 G / A
gnomAD v2:
11-17434284-G-A
gnomAD v3:
11-17412737-G-A
gnomAD v4:
11-17412737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17412737G>A , CM000673.2:g.17412737G>A | GRCh38 |
| NC_000011.9:g.17434284G>A , CM000673.1:g.17434284G>A | GRCh37 |
| NC_000011.8:g.17390860G>A | NCBI36 |
| NG_008867.1:g.69166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2154C>T | ||
| ENST00000529967.6:n.744C>T | ||
| ENST00000642611.2:n.2554C>T | ||
| ENST00000682051.1:n.2501C>T | ||
| ENST00000682110.1:n.2554C>T | ||
| ENST00000682140.1:c.2482C>T | ENSP00000507829.1:p.Leu828= | |
| ENST00000682185.1:n.3790C>T | ||
| ENST00000682204.1:c.*623C>T | ENSP00000507094.1:n.*623C>T | |
| ENST00000682215.1:n.2551C>T | ||
| ENST00000682288.1:c.*916C>T | ENSP00000507506.1:n.*916C>T | |
| ENST00000682442.1:n.2675C>T | ||
| ENST00000682528.1:n.2551C>T | ||
| ENST00000682673.1:n.2498C>T | ||
| ENST00000682805.1:n.2551C>T | ||
| ENST00000682965.1:c.2482C>T | ENSP00000508229.1:p.Leu828= | |
| ENST00000683093.1:n.2653C>T | ||
| ENST00000683136.1:c.2482C>T | ENSP00000507768.1:p.Leu828= | |
| ENST00000683153.1:n.2710C>T | ||
| ENST00000683365.1:n.2656C>T | ||
| ENST00000683377.1:n.2554C>T | ||
| ENST00000683456.1:c.2485C>T | ENSP00000508318.1:p.Leu829= | |
| ENST00000683522.1:n.2554C>T | ||
| ENST00000683562.1:c.*654C>T | ENSP00000508265.1:n.*654C>T | |
| ENST00000683693.1:n.2551C>T | ||
| ENST00000683725.1:c.2485C>T | ENSP00000507496.1:p.Leu829= | |
| ENST00000684010.1:n.2469C>T | ||
| ENST00000684157.1:n.2554C>T | ||
| ENST00000684253.1:n.2457C>T | ||
| ENST00000684288.1:c.*657C>T | ENSP00000507143.1:n.*657C>T | |
| ENST00000684313.1:n.1986C>T | ||
| ENST00000684332.1:n.2627C>T | ||
| ENST00000684371.1:n.2660C>T | ||
| ENST00000684404.1:n.2551C>T | ||
| ENST00000684442.1:n.2554C>T | ||
| ENST00000684555.1:c.*697C>T | ENSP00000507705.1:n.*697C>T | |
| ENST00000684571.1:c.2326C>T | ENSP00000506935.1:p.Leu776= | |
| ENST00000684593.1:c.*2190C>T | ENSP00000507005.1:n.*2190C>T | |
| ENST00000684711.1:c.*881C>T | ENSP00000506841.1:n.*881C>T | |
| ENST00000302539.9:c.2488C>T | ENSP00000303960.4:p.Leu830= | |
| ENST00000389817.8:c.2485C>T MANE Select | ENSP00000374467.4:p.Leu829= | |
| ENST00000642271.1:c.2482C>T | ENSP00000493749.1:p.Leu828= | |
| ENST00000642579.1:c.569C>T | ||
| ENST00000642611.1:n.2439C>T | ||
| ENST00000642902.1:c.2320C>T | ||
| ENST00000643260.1:c.2485C>T | ENSP00000494450.1:p.Leu829= | |
| ENST00000643562.1:c.*461C>T | ENSP00000496124.1:n.*461C>T | |
| ENST00000643925.1:c.529C>T | ||
| ENST00000644447.1:c.841C>T | ENSP00000496282.1:p.Leu281= | |
| ENST00000644472.1:c.*846C>T | ENSP00000495378.1:n.*846C>T | |
| ENST00000644484.1:c.*694C>T | ENSP00000493558.1:n.*694C>T | |
| ENST00000644542.1:c.*2190C>T | ENSP00000495532.1:n.*2190C>T | |
| ENST00000644675.1:c.*657C>T | ENSP00000494567.1:n.*657C>T | |
| ENST00000644757.1:c.*790C>T | ENSP00000495085.1:n.*790C>T | |
| ENST00000644772.1:c.2551C>T | ENSP00000494321.1:p.Leu851= | |
| ENST00000645076.1:c.1737C>T | ||
| ENST00000645744.1:c.*849C>T | ENSP00000494564.1:n.*849C>T | |
| ENST00000645760.1:c.2760C>T | ||
| ENST00000645884.1:c.2485C>T | ENSP00000495516.1:p.Leu829= | |
| ENST00000646003.1:c.*541C>T | ENSP00000495259.1:n.*541C>T | |
| ENST00000646207.1:c.*849C>T | ENSP00000495025.1:n.*849C>T | |
| ENST00000646276.1:c.*758C>T | ENSP00000496070.1:n.*758C>T | |
| ENST00000646592.1:c.1711C>T | ||
| ENST00000646902.1:c.2482C>T | ENSP00000494101.1:p.Leu828= | |
| ENST00000646993.1:c.*881C>T | ENSP00000493720.1:n.*881C>T | |
| ENST00000647013.1:c.2491C>T | ENSP00000496741.1:n.2491C>T | |
| ENST00000647015.1:c.2236C>T | ENSP00000495389.1:p.Leu746= | |
| ENST00000647086.1:c.*2215C>T | ENSP00000493677.1:n.*2215C>T | |
| ENST00000647158.1:c.*626C>T | ENSP00000495744.1:n.*626C>T | |
| ENST00000302539.8:c.2488C>T | ENSP00000303960.4:p.Leu830= | |
| ENST00000389817.7:c.2485C>T | ENSP00000374467.3:p.Leu829= | |
| ENST00000526921.5:n.169C>T | ||
| ENST00000527905.5:c.2455C>T | ENSP00000431653.1:p.Leu819= | |
| ENST00000529967.5:n.154C>T | ||
| ENST00000530147.5:n.68C>T | ||
| ENST00000531911.1:n.599C>T | ||
| NM_000352.4:c.2485C>T | NP_000343.2:p.Leu829= | |
| NM_001287174.1:c.2488C>T | NP_001274103.1:p.Leu830= | |
| XM_011520331.1:c.2485C>T | XP_011518633.1:p.Leu829= | |
| XM_011520332.1:c.2488C>T | XP_011518634.1:p.Leu830= | |
| XM_011520333.1:c.985C>T | XP_011518635.1:p.Leu329= | |
| XM_011520334.1:c.2488C>T | XP_011518636.1:p.Leu830= | |
| XR_930890.1:n.2551C>T | ||
| XR_930891.1:n.2551C>T | ||
| XR_930892.1:n.2551C>T | ||
| XR_930893.1:n.2548C>T | ||
| NM_001351295.1:c.2551C>T | NP_001338224.1:p.Leu851= | |
| NM_001351296.1:c.2485C>T | NP_001338225.1:p.Leu829= | |
| NM_001351297.1:c.2482C>T | NP_001338226.1:p.Leu828= | |
| NR_147094.1:n.2554C>T | ||
| XM_017018197.2:c.2554C>T | XP_016873686.1:p.Leu852= | |
| XM_017018199.1:c.2551C>T | XP_016873688.1:p.Leu851= | |
| XM_017018201.2:c.2554C>T | XP_016873690.1:p.Leu852= | |
| XM_017018202.1:c.1051C>T | XP_016873691.1:p.Leu351= | |
| XM_017018204.1:c.442C>T | XP_016873693.1:p.Leu148= | |
| XM_024448668.1:c.853C>T | XP_024304436.1:p.Leu285= | |
| XR_001747945.2:n.2626C>T | ||
| XR_001747946.2:n.2557C>T | ||
| XR_002957189.1:n.2626C>T | ||
| NM_000352.6:c.2485C>T MANE Select | NP_000343.2:p.Leu829= | |
| NM_001287174.2:c.2488C>T | NP_001274103.1:p.Leu830= | |
| NM_001351295.2:c.2551C>T | NP_001338224.1:p.Leu851= | |
| NM_001351296.2:c.2485C>T | NP_001338225.1:p.Leu829= | |
| NM_001351297.2:c.2482C>T | NP_001338226.1:p.Leu828= | |
| NR_147094.2:n.2554C>T | ||
| NM_001287174.3:c.2488C>T | NP_001274103.1:p.Leu830= |