Linked Data
ClinVar Variation Id:
195647
ClinVar RCV Id:
RCV000176259
RCV000296584
RCV000351650
RCV000406499
RCV001274297
RCV002251440
RCV002251441
RCV003165366
dbSNP Id:
rs111967655
ExAC:
11:17432147 G / A
gnomAD v2:
11-17432147-G-A
gnomAD v3:
11-17410600-G-A
gnomAD v4:
11-17410600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17410600G>A , CM000673.2:g.17410600G>A | GRCh38 |
| NC_000011.9:g.17432147G>A , CM000673.1:g.17432147G>A | GRCh37 |
| NC_000011.8:g.17388723G>A | NCBI36 |
| NG_008867.1:g.71303C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2279C>T | ||
| ENST00000529967.6:n.869C>T | ||
| ENST00000642611.2:n.2679C>T | ||
| ENST00000682051.1:n.2626C>T | ||
| ENST00000682110.1:n.2679C>T | ||
| ENST00000682140.1:c.2607C>T | ENSP00000507829.1:p.Ala869= | |
| ENST00000682185.1:n.3915C>T | ||
| ENST00000682204.1:c.*748C>T | ENSP00000507094.1:n.*748C>T | |
| ENST00000682215.1:n.2676C>T | ||
| ENST00000682288.1:c.*1041C>T | ENSP00000507506.1:n.*1041C>T | |
| ENST00000682442.1:n.2800C>T | ||
| ENST00000682528.1:n.2676C>T | ||
| ENST00000682673.1:n.2623C>T | ||
| ENST00000682805.1:n.2676C>T | ||
| ENST00000682965.1:c.2607C>T | ENSP00000508229.1:p.Ala869= | |
| ENST00000683093.1:n.2778C>T | ||
| ENST00000683136.1:c.2607C>T | ENSP00000507768.1:p.Ala869= | |
| ENST00000683153.1:n.2835C>T | ||
| ENST00000683365.1:n.2781C>T | ||
| ENST00000683377.1:n.2679C>T | ||
| ENST00000683456.1:c.2610C>T | ENSP00000508318.1:p.Ala870= | |
| ENST00000683522.1:n.2679C>T | ||
| ENST00000683562.1:c.*779C>T | ENSP00000508265.1:n.*779C>T | |
| ENST00000683693.1:n.2676C>T | ||
| ENST00000683725.1:c.2610C>T | ENSP00000507496.1:p.Ala870= | |
| ENST00000684010.1:n.2594C>T | ||
| ENST00000684157.1:n.2679C>T | ||
| ENST00000684253.1:n.2582C>T | ||
| ENST00000684288.1:c.*782C>T | ENSP00000507143.1:n.*782C>T | |
| ENST00000684313.1:n.2111C>T | ||
| ENST00000684332.1:n.2752C>T | ||
| ENST00000684371.1:n.2785C>T | ||
| ENST00000684404.1:n.2676C>T | ||
| ENST00000684442.1:n.2679C>T | ||
| ENST00000684555.1:c.*822C>T | ENSP00000507705.1:n.*822C>T | |
| ENST00000684571.1:c.2451C>T | ENSP00000506935.1:p.Ala817= | |
| ENST00000684593.1:c.*2315C>T | ENSP00000507005.1:n.*2315C>T | |
| ENST00000684711.1:c.*1006C>T | ENSP00000506841.1:n.*1006C>T | |
| ENST00000302539.9:c.2613C>T | ENSP00000303960.4:p.Ala871= | |
| ENST00000389817.8:c.2610C>T MANE Select | ENSP00000374467.4:p.Ala870= | |
| ENST00000642271.1:c.2607C>T | ENSP00000493749.1:p.Ala869= | |
| ENST00000642579.1:c.694C>T | ||
| ENST00000642611.1:n.2564C>T | ||
| ENST00000642902.1:c.2445C>T | ||
| ENST00000643260.1:c.2610C>T | ENSP00000494450.1:p.Ala870= | |
| ENST00000643562.1:c.*586C>T | ENSP00000496124.1:n.*586C>T | |
| ENST00000643925.1:c.654C>T | ||
| ENST00000644447.1:c.966C>T | ENSP00000496282.1:p.Ala322= | |
| ENST00000644472.1:c.*971C>T | ENSP00000495378.1:n.*971C>T | |
| ENST00000644484.1:c.*819C>T | ENSP00000493558.1:n.*819C>T | |
| ENST00000644542.1:c.*2315C>T | ENSP00000495532.1:n.*2315C>T | |
| ENST00000644675.1:c.*782C>T | ENSP00000494567.1:n.*782C>T | |
| ENST00000644757.1:c.*915C>T | ENSP00000495085.1:n.*915C>T | |
| ENST00000644772.1:c.2676C>T | ENSP00000494321.1:p.Ala892= | |
| ENST00000645076.1:c.1862C>T | ||
| ENST00000645744.1:c.*974C>T | ENSP00000494564.1:n.*974C>T | |
| ENST00000645760.1:c.2885C>T | ||
| ENST00000645884.1:c.2610C>T | ENSP00000495516.1:p.Ala870= | |
| ENST00000646003.1:c.*666C>T | ENSP00000495259.1:n.*666C>T | |
| ENST00000646207.1:c.*974C>T | ENSP00000495025.1:n.*974C>T | |
| ENST00000646276.1:c.*883C>T | ENSP00000496070.1:n.*883C>T | |
| ENST00000646592.1:c.1836C>T | ||
| ENST00000646902.1:c.2607C>T | ENSP00000494101.1:p.Ala869= | |
| ENST00000646993.1:c.*1006C>T | ENSP00000493720.1:n.*1006C>T | |
| ENST00000647013.1:c.2616C>T | ENSP00000496741.1:n.2616C>T | |
| ENST00000647015.1:c.2361C>T | ENSP00000495389.1:p.Ala787= | |
| ENST00000647086.1:c.*2340C>T | ENSP00000493677.1:n.*2340C>T | |
| ENST00000647158.1:c.*751C>T | ENSP00000495744.1:n.*751C>T | |
| ENST00000302539.8:c.2613C>T | ENSP00000303960.4:p.Ala871= | |
| ENST00000389817.7:c.2610C>T | ENSP00000374467.3:p.Ala870= | |
| ENST00000526921.5:n.294C>T | ||
| ENST00000527905.5:c.2580C>T | ENSP00000431653.1:p.Ala860= | |
| ENST00000529967.5:n.279C>T | ||
| ENST00000530147.5:n.193C>T | ||
| ENST00000531911.1:n.724C>T | ||
| NM_000352.4:c.2610C>T | NP_000343.2:p.Ala870= | |
| NM_001287174.1:c.2613C>T | NP_001274103.1:p.Ala871= | |
| XM_011520331.1:c.2610C>T | XP_011518633.1:p.Ala870= | |
| XM_011520332.1:c.2613C>T | XP_011518634.1:p.Ala871= | |
| XM_011520333.1:c.1110C>T | XP_011518635.1:p.Ala370= | |
| XM_011520334.1:c.2613C>T | XP_011518636.1:p.Ala871= | |
| XR_930890.1:n.2676C>T | ||
| XR_930891.1:n.2676C>T | ||
| XR_930892.1:n.2676C>T | ||
| XR_930893.1:n.2673C>T | ||
| NM_001351295.1:c.2676C>T | NP_001338224.1:p.Ala892= | |
| NM_001351296.1:c.2610C>T | NP_001338225.1:p.Ala870= | |
| NM_001351297.1:c.2607C>T | NP_001338226.1:p.Ala869= | |
| NR_147094.1:n.2679C>T | ||
| XM_017018197.2:c.2679C>T | XP_016873686.1:p.Ala893= | |
| XM_017018199.1:c.2676C>T | XP_016873688.1:p.Ala892= | |
| XM_017018201.2:c.2679C>T | XP_016873690.1:p.Ala893= | |
| XM_017018202.1:c.1176C>T | XP_016873691.1:p.Ala392= | |
| XM_017018204.1:c.567C>T | XP_016873693.1:p.Ala189= | |
| XM_024448668.1:c.978C>T | XP_024304436.1:p.Ala326= | |
| XR_001747945.2:n.2751C>T | ||
| XR_001747946.2:n.2682C>T | ||
| XR_002957189.1:n.2751C>T | ||
| NM_000352.6:c.2610C>T MANE Select | NP_000343.2:p.Ala870= | |
| NM_001287174.2:c.2613C>T | NP_001274103.1:p.Ala871= | |
| NM_001351295.2:c.2676C>T | NP_001338224.1:p.Ala892= | |
| NM_001351296.2:c.2610C>T | NP_001338225.1:p.Ala870= | |
| NM_001351297.2:c.2607C>T | NP_001338226.1:p.Ala869= | |
| NR_147094.2:n.2679C>T | ||
| NM_001287174.3:c.2613C>T | NP_001274103.1:p.Ala871= |