Linked Data
ClinVar Variation Id:
157694
ClinVar RCV Id:
RCV000144989
RCV000576868
RCV001533276
RCV001533277
RCV001533278
RCV001533279
RCV002273961
RCV002251435
dbSNP Id:
rs2106865
ExAC:
11:17429922 T / C
gnomAD v2:
11-17429922-T-C
gnomAD v3:
11-17408375-T-C
gnomAD v4:
11-17408375-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17408375T>C , CM000673.2:g.17408375T>C | GRCh38 |
| NC_000011.9:g.17429922T>C , CM000673.1:g.17429922T>C | GRCh37 |
| NC_000011.8:g.17386498T>C | NCBI36 |
| NG_008867.1:g.73528A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2489+17A>G | ||
| ENST00000529967.6:n.1079+17A>G | ||
| ENST00000532220.2:n.552+17A>G | ||
| ENST00000642611.2:n.2889+17A>G | ||
| ENST00000682051.1:n.2836+17A>G | ||
| ENST00000682110.1:n.2889+17A>G | ||
| ENST00000682140.1:c.2817+17A>G | ENSP00000507829.1:n.2817+17A>G | |
| ENST00000682185.1:n.4125+17A>G | ||
| ENST00000682204.1:c.*958+17A>G | ENSP00000507094.1:n.*958+17A>G | |
| ENST00000682215.1:n.2886+17A>G | ||
| ENST00000682288.1:c.*1251+17A>G | ENSP00000507506.1:n.*1251+17A>G | |
| ENST00000682442.1:n.3010+17A>G | ||
| ENST00000682528.1:n.2886+17A>G | ||
| ENST00000682673.1:n.2833+17A>G | ||
| ENST00000682805.1:n.2886+17A>G | ||
| ENST00000682965.1:c.2817+17A>G | ENSP00000508229.1:n.2817+17A>G | |
| ENST00000683093.1:n.2988+17A>G | ||
| ENST00000683136.1:c.2817+17A>G | ENSP00000507768.1:n.2817+17A>G | |
| ENST00000683153.1:n.3045+17A>G | ||
| ENST00000683365.1:n.2991+17A>G | ||
| ENST00000683377.1:n.2889+17A>G | ||
| ENST00000683456.1:c.2820+17A>G | ENSP00000508318.1:n.2820+17A>G | |
| ENST00000683522.1:n.2889+17A>G | ||
| ENST00000683562.1:c.*989+17A>G | ENSP00000508265.1:n.*989+17A>G | |
| ENST00000683693.1:n.2886+17A>G | ||
| ENST00000683725.1:c.2820+17A>G | ENSP00000507496.1:n.2820+17A>G | |
| ENST00000684010.1:n.2804+17A>G | ||
| ENST00000684157.1:n.2889+17A>G | ||
| ENST00000684253.1:n.2792+17A>G | ||
| ENST00000684288.1:c.*992+17A>G | ENSP00000507143.1:n.*992+17A>G | |
| ENST00000684313.1:n.2321+17A>G | ||
| ENST00000684332.1:n.2962+17A>G | ||
| ENST00000684371.1:n.2995+17A>G | ||
| ENST00000684404.1:n.2886+17A>G | ||
| ENST00000684442.1:n.2889+17A>G | ||
| ENST00000684555.1:c.*1032+17A>G | ENSP00000507705.1:n.*1032+17A>G | |
| ENST00000684571.1:c.2661+17A>G | ENSP00000506935.1:n.2661+17A>G | |
| ENST00000684593.1:c.*2525+17A>G | ENSP00000507005.1:n.*2525+17A>G | |
| ENST00000684711.1:c.*1216+17A>G | ENSP00000506841.1:n.*1216+17A>G | |
| ENST00000302539.9:c.2823+17A>G | ENSP00000303960.4:n.2823+17A>G | |
| ENST00000389817.8:c.2820+17A>G MANE Select | ENSP00000374467.4:n.2820+17A>G | |
| ENST00000642271.1:c.2817+17A>G | ENSP00000493749.1:n.2817+17A>G | |
| ENST00000642579.1:c.904+17A>G | ||
| ENST00000642611.1:n.2774+17A>G | ||
| ENST00000642902.1:c.2655+17A>G | ||
| ENST00000643260.1:c.2820+17A>G | ENSP00000494450.1:n.2820+17A>G | |
| ENST00000643562.1:c.*796+17A>G | ENSP00000496124.1:n.*796+17A>G | |
| ENST00000643925.1:c.864+17A>G | ||
| ENST00000644447.1:c.1176+17A>G | ENSP00000496282.1:n.1176+17A>G | |
| ENST00000644484.1:c.*1029+17A>G | ENSP00000493558.1:n.*1029+17A>G | |
| ENST00000644542.1:c.*2525+17A>G | ENSP00000495532.1:n.*2525+17A>G | |
| ENST00000644675.1:c.*992+17A>G | ENSP00000494567.1:n.*992+17A>G | |
| ENST00000644757.1:c.*1125+17A>G | ENSP00000495085.1:n.*1125+17A>G | |
| ENST00000644772.1:c.2886+17A>G | ENSP00000494321.1:n.2886+17A>G | |
| ENST00000645076.1:c.2072+17A>G | ||
| ENST00000645744.1:c.*1184+17A>G | ENSP00000494564.1:n.*1184+17A>G | |
| ENST00000645760.1:c.3095+17A>G | ||
| ENST00000645884.1:c.2820+17A>G | ENSP00000495516.1:n.2820+17A>G | |
| ENST00000646003.1:c.*876+17A>G | ENSP00000495259.1:n.*876+17A>G | |
| ENST00000646207.1:c.*1184+17A>G | ENSP00000495025.1:n.*1184+17A>G | |
| ENST00000646276.1:c.*1093+17A>G | ENSP00000496070.1:n.*1093+17A>G | |
| ENST00000646592.1:c.2046+17A>G | ||
| ENST00000646902.1:c.2817+17A>G | ENSP00000494101.1:n.2817+17A>G | |
| ENST00000646993.1:c.*1216+17A>G | ENSP00000493720.1:n.*1216+17A>G | |
| ENST00000647013.1:c.2826+17A>G | ENSP00000496741.1:n.2826+17A>G | |
| ENST00000647015.1:c.2571+17A>G | ENSP00000495389.1:n.2571+17A>G | |
| ENST00000647086.1:c.*2550+17A>G | ENSP00000493677.1:n.*2550+17A>G | |
| ENST00000647158.1:c.*961+17A>G | ENSP00000495744.1:n.*961+17A>G | |
| ENST00000302539.8:c.2823+17A>G | ENSP00000303960.4:n.2823+17A>G | |
| ENST00000389817.7:c.2820+17A>G | ENSP00000374467.3:n.2820+17A>G | |
| ENST00000526921.5:n.504+17A>G | ||
| ENST00000527905.5:c.2790+17A>G | ENSP00000431653.1:n.2790+17A>G | |
| ENST00000529967.5:n.489+17A>G | ||
| NM_000352.4:c.2820+17A>G | NP_000343.2:n.2820+17A>G | |
| NM_001287174.1:c.2823+17A>G | NP_001274103.1:n.2823+17A>G | |
| XM_011520331.1:c.2820+17A>G | XP_011518633.1:n.2820+17A>G | |
| XM_011520332.1:c.2823+17A>G | XP_011518634.1:n.2823+17A>G | |
| XM_011520333.1:c.1320+17A>G | XP_011518635.1:n.1320+17A>G | |
| XM_011520334.1:c.2823+17A>G | XP_011518636.1:n.2823+17A>G | |
| XR_930890.1:n.2886+17A>G | ||
| XR_930891.1:n.2886+17A>G | ||
| XR_930892.1:n.2886+17A>G | ||
| XR_930893.1:n.2883+17A>G | ||
| NM_001351295.1:c.2886+17A>G | NP_001338224.1:n.2886+17A>G | |
| NM_001351296.1:c.2820+17A>G | NP_001338225.1:n.2820+17A>G | |
| NM_001351297.1:c.2817+17A>G | NP_001338226.1:n.2817+17A>G | |
| NR_147094.1:n.2889+17A>G | ||
| XM_017018197.2:c.2889+17A>G | XP_016873686.1:n.2889+17A>G | |
| XM_017018199.1:c.2886+17A>G | XP_016873688.1:n.2886+17A>G | |
| XM_017018201.2:c.2889+17A>G | XP_016873690.1:n.2889+17A>G | |
| XM_017018202.1:c.1386+17A>G | XP_016873691.1:n.1386+17A>G | |
| XM_017018204.1:c.777+17A>G | XP_016873693.1:n.777+17A>G | |
| XM_024448668.1:c.1188+17A>G | XP_024304436.1:n.1188+17A>G | |
| XR_001747945.2:n.2961+17A>G | ||
| XR_001747946.2:n.2892+17A>G | ||
| XR_002957189.1:n.2961+17A>G | ||
| NM_000352.6:c.2820+17A>G MANE Select | NP_000343.2:n.2820+17A>G | |
| NM_001287174.2:c.2823+17A>G | NP_001274103.1:n.2823+17A>G | |
| NM_001351295.2:c.2886+17A>G | NP_001338224.1:n.2886+17A>G | |
| NM_001351296.2:c.2820+17A>G | NP_001338225.1:n.2820+17A>G | |
| NM_001351297.2:c.2817+17A>G | NP_001338226.1:n.2817+17A>G | |
| NR_147094.2:n.2889+17A>G | ||
| NM_001287174.3:c.2823+17A>G | NP_001274103.1:n.2823+17A>G |