Linked Data
ClinVar Variation Id:
1571952
ClinVar RCV Id:
RCV002205988
dbSNP Id:
rs1234950562
gnomAD v2:
11-17417274-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395727G>A , CM000673.2:g.17395727G>A | GRCh38 |
| NC_000011.9:g.17417274G>A , CM000673.1:g.17417274G>A | GRCh37 |
| NC_000011.8:g.17373850G>A | NCBI36 |
| NG_008867.1:g.86176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3800-9C>T | ||
| ENST00000528374.2:c.790-9C>T | ||
| ENST00000529967.6:n.2538-9C>T | ||
| ENST00000532220.2:n.3432-9C>T | ||
| ENST00000642611.2:n.5523C>T | ||
| ENST00000644057.2:n.766C>T | ||
| ENST00000645004.2:n.1698-9C>T | ||
| ENST00000682051.1:n.4361-9C>T | ||
| ENST00000682110.1:n.4414-9C>T | ||
| ENST00000682140.1:c.4065-9C>T | ENSP00000507829.1:n.4065-9C>T | |
| ENST00000682185.1:n.5504-9C>T | ||
| ENST00000682204.1:c.*2337-9C>T | ENSP00000507094.1:n.*2337-9C>T | |
| ENST00000682215.1:n.4781-9C>T | ||
| ENST00000682288.1:c.*2630-9C>T | ENSP00000507506.1:n.*2630-9C>T | |
| ENST00000682442.1:n.4634-9C>T | ||
| ENST00000682528.1:n.4491-9C>T | ||
| ENST00000682673.1:n.4358-9C>T | ||
| ENST00000682805.1:n.4819-9C>T | ||
| ENST00000682965.1:c.*621-9C>T | ENSP00000508229.1:n.*621-9C>T | |
| ENST00000683093.1:n.5498-9C>T | ||
| ENST00000683136.1:c.4082-9C>T | ENSP00000507768.1:n.4082-9C>T | |
| ENST00000683153.1:n.4456-9C>T | ||
| ENST00000683365.1:n.4516-9C>T | ||
| ENST00000683377.1:n.4414-9C>T | ||
| ENST00000683456.1:c.*1336-9C>T | ENSP00000508318.1:n.*1336-9C>T | |
| ENST00000683522.1:n.4414-9C>T | ||
| ENST00000683562.1:c.*2368-9C>T | ENSP00000508265.1:n.*2368-9C>T | |
| ENST00000683693.1:n.5970C>T | ||
| ENST00000683725.1:c.4199-9C>T | ENSP00000507496.1:n.4199-9C>T | |
| ENST00000684010.1:n.4409-9C>T | ||
| ENST00000684157.1:n.5399-9C>T | ||
| ENST00000684253.1:n.4317-9C>T | ||
| ENST00000684288.1:c.*2371-9C>T | ENSP00000507143.1:n.*2371-9C>T | |
| ENST00000684313.1:n.3846-9C>T | ||
| ENST00000684332.1:n.4487-9C>T | ||
| ENST00000684371.1:n.4520-9C>T | ||
| ENST00000684404.1:n.5442-9C>T | ||
| ENST00000684442.1:n.4638-9C>T | ||
| ENST00000684555.1:c.*2411-9C>T | ENSP00000507705.1:n.*2411-9C>T | |
| ENST00000684571.1:c.4040-9C>T | ENSP00000506935.1:n.4040-9C>T | |
| ENST00000684593.1:c.*3904-9C>T | ENSP00000507005.1:n.*3904-9C>T | |
| ENST00000684711.1:c.*2595-9C>T | ENSP00000506841.1:n.*2595-9C>T | |
| ENST00000302539.9:c.4202-9C>T | ENSP00000303960.4:n.4202-9C>T | |
| ENST00000389817.8:c.4199-9C>T MANE Select | ENSP00000374467.4:n.4199-9C>T | |
| ENST00000642271.1:c.4196-9C>T | ENSP00000493749.1:n.4196-9C>T | |
| ENST00000642579.1:c.2253-9C>T | ||
| ENST00000642611.1:n.5408C>T | ||
| ENST00000642902.1:c.3981-9C>T | ||
| ENST00000643260.1:c.4199-9C>T | ENSP00000494450.1:n.4199-9C>T | |
| ENST00000643562.1:c.*2321-9C>T | ENSP00000496124.1:n.*2321-9C>T | |
| ENST00000643925.1:c.2839-9C>T | ||
| ENST00000644057.1:n.276-9C>T | ||
| ENST00000644484.1:c.*3585-9C>T | ENSP00000493558.1:n.*3585-9C>T | |
| ENST00000644675.1:c.*2371-9C>T | ENSP00000494567.1:n.*2371-9C>T | |
| ENST00000644757.1:c.*3202+537C>T | ENSP00000495085.1:n.*3202+537C>T | |
| ENST00000644772.1:c.4265-9C>T | ENSP00000494321.1:n.4265-9C>T | |
| ENST00000645004.1:n.1892-9C>T | ||
| ENST00000645076.1:c.3398-9C>T | ||
| ENST00000645417.1:c.1387-9C>T | ||
| ENST00000645744.1:c.*3964-89C>T | ENSP00000494564.1:n.*3964-89C>T | |
| ENST00000645760.1:c.4620-9C>T | ||
| ENST00000645884.1:c.*1482-9C>T | ENSP00000495516.1:n.*1482-9C>T | |
| ENST00000646003.1:c.*2301-89C>T | ENSP00000495259.1:n.*2301-89C>T | |
| ENST00000646207.1:c.*3036-9C>T | ENSP00000495025.1:n.*3036-9C>T | |
| ENST00000646276.1:c.*3603-9C>T | ENSP00000496070.1:n.*3603-9C>T | |
| ENST00000646592.1:c.3505-9C>T | ||
| ENST00000646902.1:c.4166-9C>T | ENSP00000494101.1:n.4166-9C>T | |
| ENST00000646993.1:c.*2741-9C>T | ENSP00000493720.1:n.*2741-9C>T | |
| ENST00000647013.1:c.4205-9C>T | ENSP00000496741.1:n.4205-9C>T | |
| ENST00000647015.1:c.3950-9C>T | ENSP00000495389.1:n.3950-9C>T | |
| ENST00000647086.1:c.*3785-9C>T | ENSP00000493677.1:n.*3785-9C>T | |
| ENST00000647158.1:c.*2486-9C>T | ENSP00000495744.1:n.*2486-9C>T | |
| ENST00000302539.8:c.4202-9C>T | ENSP00000303960.4:n.4202-9C>T | |
| ENST00000389817.7:c.4199-9C>T | ENSP00000374467.3:n.4199-9C>T | |
| ENST00000525022.1:n.189C>T | ||
| ENST00000526037.5:n.54C>T | ||
| ENST00000526168.5:c.67-89C>T | ||
| ENST00000531642.5:c.35-9C>T | ||
| NM_000352.4:c.4199-9C>T | NP_000343.2:n.4199-9C>T | |
| NM_001287174.1:c.4202-9C>T | NP_001274103.1:n.4202-9C>T | |
| XM_011520331.1:c.4199-9C>T | XP_011518633.1:n.4199-9C>T | |
| XM_011520332.1:c.4202-9C>T | XP_011518634.1:n.4202-9C>T | |
| XM_011520333.1:c.2699-9C>T | XP_011518635.1:n.2699-9C>T | |
| XR_930890.1:n.4265-9C>T | ||
| NM_001351295.1:c.4265-9C>T | NP_001338224.1:n.4265-9C>T | |
| NM_001351296.1:c.4199-9C>T | NP_001338225.1:n.4199-9C>T | |
| NM_001351297.1:c.4196-9C>T | NP_001338226.1:n.4196-9C>T | |
| NR_147094.1:n.4494-9C>T | ||
| XM_017018197.2:c.4268-9C>T | XP_016873686.1:n.4268-9C>T | |
| XM_017018199.1:c.4265-9C>T | XP_016873688.1:n.4265-9C>T | |
| XM_017018201.2:c.4268-9C>T | XP_016873690.1:n.4268-9C>T | |
| XM_017018202.1:c.2765-9C>T | XP_016873691.1:n.2765-9C>T | |
| XM_017018204.1:c.2156-9C>T | XP_016873693.1:n.2156-9C>T | |
| XM_024448668.1:c.2567-9C>T | XP_024304436.1:n.2567-9C>T | |
| XR_001747945.2:n.4340-9C>T | ||
| XR_001747946.2:n.4271-9C>T | ||
| XR_002957189.1:n.6045C>T | ||
| NM_000352.6:c.4199-9C>T MANE Select | NP_000343.2:n.4199-9C>T | |
| NM_001287174.2:c.4202-9C>T | NP_001274103.1:n.4202-9C>T | |
| NM_001351295.2:c.4265-9C>T | NP_001338224.1:n.4265-9C>T | |
| NM_001351296.2:c.4199-9C>T | NP_001338225.1:n.4199-9C>T | |
| NM_001351297.2:c.4196-9C>T | NP_001338226.1:n.4196-9C>T | |
| NR_147094.2:n.4494-9C>T | ||
| NM_001287174.3:c.4202-9C>T | NP_001274103.1:n.4202-9C>T |