Linked Data
ClinVar Variation Id:
35619
ClinVar RCV Id:
RCV000029266
RCV000517239
RCV001274287
RCV002243667
RCV002243668
RCV002482906
RCV003556088
RCV004541018
dbSNP Id:
rs193922404
ExAC:
11:17415960 G / A
gnomAD v2:
11-17415960-G-A
gnomAD v3:
11-17394413-G-A
gnomAD v4:
11-17394413-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17394413G>A , CM000673.2:g.17394413G>A | GRCh38 |
| NC_000011.9:g.17415960G>A , CM000673.1:g.17415960G>A | GRCh37 |
| NC_000011.8:g.17372536G>A | NCBI36 |
| NG_008867.1:g.87490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4013-14C>T | ||
| ENST00000526037.6:n.347-14C>T | ||
| ENST00000528374.2:c.1003-14C>T | ||
| ENST00000529967.6:n.2751-14C>T | ||
| ENST00000532220.2:n.3645-14C>T | ||
| ENST00000642611.2:n.5745-14C>T | ||
| ENST00000644057.2:n.988-14C>T | ||
| ENST00000645004.2:n.1911-14C>T | ||
| ENST00000682051.1:n.4574-14C>T | ||
| ENST00000682110.1:n.4627-14C>T | ||
| ENST00000682140.1:c.*198-14C>T | ENSP00000507829.1:n.*198-14C>T | |
| ENST00000682185.1:n.5717-14C>T | ||
| ENST00000682204.1:c.*2550-14C>T | ENSP00000507094.1:n.*2550-14C>T | |
| ENST00000682215.1:n.4994-14C>T | ||
| ENST00000682288.1:c.*2843-14C>T | ENSP00000507506.1:n.*2843-14C>T | |
| ENST00000682442.1:n.4847-14C>T | ||
| ENST00000682528.1:n.4704-14C>T | ||
| ENST00000682673.1:n.4571-14C>T | ||
| ENST00000682805.1:n.5032-14C>T | ||
| ENST00000682965.1:c.*834-14C>T | ENSP00000508229.1:n.*834-14C>T | |
| ENST00000683093.1:n.5607-14C>T | ||
| ENST00000683136.1:c.4295-14C>T | ENSP00000507768.1:n.4295-14C>T | |
| ENST00000683153.1:n.4669-14C>T | ||
| ENST00000683365.1:n.4729-14C>T | ||
| ENST00000683377.1:n.4523-14C>T | ||
| ENST00000683456.1:c.*1549-14C>T | ENSP00000508318.1:n.*1549-14C>T | |
| ENST00000683522.1:n.4709-14C>T | ||
| ENST00000683562.1:c.*2477-14C>T | ENSP00000508265.1:n.*2477-14C>T | |
| ENST00000683693.1:n.6088-14C>T | ||
| ENST00000683725.1:c.4308-14C>T | ENSP00000507496.1:n.4308-14C>T | |
| ENST00000684010.1:n.4622-14C>T | ||
| ENST00000684014.1:n.585C>T | ||
| ENST00000684157.1:n.5612-14C>T | ||
| ENST00000684253.1:n.4530-14C>T | ||
| ENST00000684288.1:c.*2584-14C>T | ENSP00000507143.1:n.*2584-14C>T | |
| ENST00000684313.1:n.4059-14C>T | ||
| ENST00000684332.1:n.4700-14C>T | ||
| ENST00000684371.1:n.4733-14C>T | ||
| ENST00000684404.1:n.5655-14C>T | ||
| ENST00000684442.1:n.4851-14C>T | ||
| ENST00000684555.1:c.*2624-14C>T | ENSP00000507705.1:n.*2624-14C>T | |
| ENST00000684571.1:c.4253-14C>T | ENSP00000506935.1:n.4253-14C>T | |
| ENST00000684593.1:c.*4117-14C>T | ENSP00000507005.1:n.*4117-14C>T | |
| ENST00000684711.1:c.*2808-14C>T | ENSP00000506841.1:n.*2808-14C>T | |
| ENST00000302539.9:c.4415-14C>T | ENSP00000303960.4:n.4415-14C>T | |
| ENST00000389817.8:c.4412-14C>T MANE Select | ENSP00000374467.4:n.4412-14C>T | |
| ENST00000642271.1:c.4409-14C>T | ENSP00000493749.1:n.4409-14C>T | |
| ENST00000642579.1:c.2466-14C>T | ||
| ENST00000642611.1:n.5630-14C>T | ||
| ENST00000642902.1:c.4194-14C>T | ||
| ENST00000643260.1:c.4412-14C>T | ENSP00000494450.1:n.4412-14C>T | |
| ENST00000643562.1:c.*2534-14C>T | ENSP00000496124.1:n.*2534-14C>T | |
| ENST00000643925.1:c.3052-14C>T | ||
| ENST00000644057.1:n.571-14C>T | ||
| ENST00000644484.1:c.*3798-14C>T | ENSP00000493558.1:n.*3798-14C>T | |
| ENST00000644675.1:c.*2584-14C>T | ENSP00000494567.1:n.*2584-14C>T | |
| ENST00000644757.1:c.*3203-1433C>T | ENSP00000495085.1:n.*3203-1433C>T | |
| ENST00000644772.1:c.4478-14C>T | ENSP00000494321.1:n.4478-14C>T | |
| ENST00000645004.1:n.2105-14C>T | ||
| ENST00000645076.1:c.3507-14C>T | ||
| ENST00000645417.1:c.1600-14C>T | ||
| ENST00000645744.1:c.*4097-14C>T | ENSP00000494564.1:n.*4097-14C>T | |
| ENST00000645760.1:c.4833-14C>T | ||
| ENST00000645884.1:c.*1695-14C>T | ENSP00000495516.1:n.*1695-14C>T | |
| ENST00000646003.1:c.*2434-14C>T | ENSP00000495259.1:n.*2434-14C>T | |
| ENST00000646207.1:c.*3249-14C>T | ENSP00000495025.1:n.*3249-14C>T | |
| ENST00000646276.1:c.*3816-14C>T | ENSP00000496070.1:n.*3816-14C>T | |
| ENST00000646592.1:c.3718-14C>T | ||
| ENST00000646902.1:c.4379-14C>T | ENSP00000494101.1:n.4379-14C>T | |
| ENST00000646993.1:c.*2850-14C>T | ENSP00000493720.1:n.*2850-14C>T | |
| ENST00000647013.1:c.4418-14C>T | ENSP00000496741.1:n.4418-14C>T | |
| ENST00000647015.1:c.4163-14C>T | ENSP00000495389.1:n.4163-14C>T | |
| ENST00000647086.1:c.*3998-14C>T | ENSP00000493677.1:n.*3998-14C>T | |
| ENST00000647158.1:c.*2699-14C>T | ENSP00000495744.1:n.*2699-14C>T | |
| ENST00000302539.8:c.4415-14C>T | ENSP00000303960.4:n.4415-14C>T | |
| ENST00000389817.7:c.4412-14C>T | ENSP00000374467.3:n.4412-14C>T | |
| ENST00000525022.1:n.307-14C>T | ||
| ENST00000526037.5:n.172-14C>T | ||
| ENST00000526168.5:c.200-14C>T | ||
| ENST00000531642.5:c.443-14C>T | ||
| NM_000352.4:c.4412-14C>T | NP_000343.2:n.4412-14C>T | |
| NM_001287174.1:c.4415-14C>T | NP_001274103.1:n.4415-14C>T | |
| XM_011520331.1:c.4412-14C>T | XP_011518633.1:n.4412-14C>T | |
| XM_011520332.1:c.4311-14C>T | XP_011518634.1:n.4311-14C>T | |
| XM_011520333.1:c.2912-14C>T | XP_011518635.1:n.2912-14C>T | |
| XR_930890.1:n.4374-14C>T | ||
| NM_001351295.1:c.4478-14C>T | NP_001338224.1:n.4478-14C>T | |
| NM_001351296.1:c.4412-14C>T | NP_001338225.1:n.4412-14C>T | |
| NM_001351297.1:c.4409-14C>T | NP_001338226.1:n.4409-14C>T | |
| NR_147094.1:n.4707-14C>T | ||
| XM_017018197.2:c.4481-14C>T | XP_016873686.1:n.4481-14C>T | |
| XM_017018199.1:c.4478-14C>T | XP_016873688.1:n.4478-14C>T | |
| XM_017018201.2:c.4377-14C>T | XP_016873690.1:n.4377-14C>T | |
| XM_017018202.1:c.2978-14C>T | XP_016873691.1:n.2978-14C>T | |
| XM_017018204.1:c.2369-14C>T | XP_016873693.1:n.2369-14C>T | |
| XM_024448668.1:c.2780-14C>T | XP_024304436.1:n.2780-14C>T | |
| XR_001747945.2:n.4449-14C>T | ||
| XR_001747946.2:n.4380-14C>T | ||
| XR_002957189.1:n.6163-14C>T | ||
| NM_000352.6:c.4412-14C>T MANE Select | NP_000343.2:n.4412-14C>T | |
| NM_001287174.2:c.4415-14C>T | NP_001274103.1:n.4415-14C>T | |
| NM_001351295.2:c.4478-14C>T | NP_001338224.1:n.4478-14C>T | |
| NM_001351296.2:c.4412-14C>T | NP_001338225.1:n.4412-14C>T | |
| NM_001351297.2:c.4409-14C>T | NP_001338226.1:n.4409-14C>T | |
| NR_147094.2:n.4707-14C>T | ||
| NM_001287174.3:c.4415-14C>T | NP_001274103.1:n.4415-14C>T |