Linked Data
dbSNP Id:
rs182936222
gnomAD v2:
11-17418197-C-T
gnomAD v3:
11-17396650-C-T
gnomAD v4:
11-17396650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396650C>T , CM000673.2:g.17396650C>T | GRCh38 |
| NC_000011.9:g.17418197C>T , CM000673.1:g.17418197C>T | GRCh37 |
| NC_000011.8:g.17374773C>T | NCBI36 |
| NG_008867.1:g.85253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3720+266G>A | ||
| ENST00000528374.2:c.710+266G>A | ||
| ENST00000529967.6:n.2458+266G>A | ||
| ENST00000532220.2:n.2633G>A | ||
| ENST00000642611.2:n.4600G>A | ||
| ENST00000644057.2:n.562+266G>A | ||
| ENST00000645004.2:n.1618+266G>A | ||
| ENST00000682051.1:n.4281+266G>A | ||
| ENST00000682110.1:n.4334+266G>A | ||
| ENST00000682140.1:c.3985+543G>A | ENSP00000507829.1:n.3985+543G>A | |
| ENST00000682185.1:n.5424+266G>A | ||
| ENST00000682204.1:c.*2257+266G>A | ENSP00000507094.1:n.*2257+266G>A | |
| ENST00000682215.1:n.4701+266G>A | ||
| ENST00000682288.1:c.*2550+266G>A | ENSP00000507506.1:n.*2550+266G>A | |
| ENST00000682442.1:n.4554+266G>A | ||
| ENST00000682528.1:n.4411+266G>A | ||
| ENST00000682673.1:n.4278+266G>A | ||
| ENST00000682805.1:n.4739+228G>A | ||
| ENST00000682965.1:c.*541+266G>A | ENSP00000508229.1:n.*541+266G>A | |
| ENST00000683093.1:n.4699G>A | ||
| ENST00000683136.1:c.4002+266G>A | ENSP00000507768.1:n.4002+266G>A | |
| ENST00000683153.1:n.4376+266G>A | ||
| ENST00000683365.1:n.4436+266G>A | ||
| ENST00000683377.1:n.4334+266G>A | ||
| ENST00000683456.1:c.*1256+266G>A | ENSP00000508318.1:n.*1256+266G>A | |
| ENST00000683522.1:n.4334+266G>A | ||
| ENST00000683562.1:c.*2288+266G>A | ENSP00000508265.1:n.*2288+266G>A | |
| ENST00000683693.1:n.5047G>A | ||
| ENST00000683725.1:c.4119+266G>A | ENSP00000507496.1:n.4119+266G>A | |
| ENST00000684010.1:n.4329+266G>A | ||
| ENST00000684157.1:n.4600G>A | ||
| ENST00000684253.1:n.4237+266G>A | ||
| ENST00000684288.1:c.*2291+266G>A | ENSP00000507143.1:n.*2291+266G>A | |
| ENST00000684313.1:n.3766+266G>A | ||
| ENST00000684332.1:n.4407+266G>A | ||
| ENST00000684371.1:n.4440+266G>A | ||
| ENST00000684404.1:n.4643G>A | ||
| ENST00000684442.1:n.4558+266G>A | ||
| ENST00000684555.1:c.*2331+266G>A | ENSP00000507705.1:n.*2331+266G>A | |
| ENST00000684571.1:c.3960+266G>A | ENSP00000506935.1:n.3960+266G>A | |
| ENST00000684593.1:c.*3824+266G>A | ENSP00000507005.1:n.*3824+266G>A | |
| ENST00000684711.1:c.*2515+266G>A | ENSP00000506841.1:n.*2515+266G>A | |
| ENST00000302539.9:c.4122+266G>A | ENSP00000303960.4:n.4122+266G>A | |
| ENST00000389817.8:c.4119+266G>A MANE Select | ENSP00000374467.4:n.4119+266G>A | |
| ENST00000642271.1:c.4116+266G>A | ENSP00000493749.1:n.4116+266G>A | |
| ENST00000642579.1:c.2173+266G>A | ||
| ENST00000642611.1:n.4485G>A | ||
| ENST00000642902.1:c.3901+266G>A | ||
| ENST00000643260.1:c.4119+266G>A | ENSP00000494450.1:n.4119+266G>A | |
| ENST00000643562.1:c.*2241+266G>A | ENSP00000496124.1:n.*2241+266G>A | |
| ENST00000643925.1:c.2759+266G>A | ||
| ENST00000644057.1:n.196+266G>A | ||
| ENST00000644484.1:c.*2786G>A | ENSP00000493558.1:n.*2786G>A | |
| ENST00000644675.1:c.*2291+266G>A | ENSP00000494567.1:n.*2291+266G>A | |
| ENST00000644757.1:c.*2816G>A | ENSP00000495085.1:n.*2816G>A | |
| ENST00000644772.1:c.4185+266G>A | ENSP00000494321.1:n.4185+266G>A | |
| ENST00000645004.1:n.1812+228G>A | ||
| ENST00000645076.1:c.3318+266G>A | ||
| ENST00000645417.1:c.1307+266G>A | ||
| ENST00000645744.1:c.*3165G>A | ENSP00000494564.1:n.*3165G>A | |
| ENST00000645760.1:c.4540+266G>A | ||
| ENST00000645884.1:c.*1402+266G>A | ENSP00000495516.1:n.*1402+266G>A | |
| ENST00000646003.1:c.*2221+266G>A | ENSP00000495259.1:n.*2221+266G>A | |
| ENST00000646207.1:c.*2956+266G>A | ENSP00000495025.1:n.*2956+266G>A | |
| ENST00000646276.1:c.*2804G>A | ENSP00000496070.1:n.*2804G>A | |
| ENST00000646592.1:c.3425+266G>A | ||
| ENST00000646902.1:c.4086+266G>A | ENSP00000494101.1:n.4086+266G>A | |
| ENST00000646993.1:c.*2661+266G>A | ENSP00000493720.1:n.*2661+266G>A | |
| ENST00000647013.1:c.4125+266G>A | ENSP00000496741.1:n.4125+266G>A | |
| ENST00000647015.1:c.3870+266G>A | ENSP00000495389.1:n.3870+266G>A | |
| ENST00000647086.1:c.*3705+266G>A | ENSP00000493677.1:n.*3705+266G>A | |
| ENST00000647158.1:c.*2406+266G>A | ENSP00000495744.1:n.*2406+266G>A | |
| ENST00000302539.8:c.4122+266G>A | ENSP00000303960.4:n.4122+266G>A | |
| ENST00000389817.7:c.4119+266G>A | ENSP00000374467.3:n.4119+266G>A | |
| ENST00000528374.1:c.601+266G>A | ||
| ENST00000532220.1:n.593+266G>A | ||
| NM_000352.4:c.4119+266G>A | NP_000343.2:n.4119+266G>A | |
| NM_001287174.1:c.4122+266G>A | NP_001274103.1:n.4122+266G>A | |
| XM_011520331.1:c.4119+266G>A | XP_011518633.1:n.4119+266G>A | |
| XM_011520332.1:c.4122+266G>A | XP_011518634.1:n.4122+266G>A | |
| XM_011520333.1:c.2619+266G>A | XP_011518635.1:n.2619+266G>A | |
| XR_930890.1:n.4185+266G>A | ||
| NM_001351295.1:c.4185+266G>A | NP_001338224.1:n.4185+266G>A | |
| NM_001351296.1:c.4119+266G>A | NP_001338225.1:n.4119+266G>A | |
| NM_001351297.1:c.4116+266G>A | NP_001338226.1:n.4116+266G>A | |
| NR_147094.1:n.4414+266G>A | ||
| XM_017018197.2:c.4188+266G>A | XP_016873686.1:n.4188+266G>A | |
| XM_017018199.1:c.4185+266G>A | XP_016873688.1:n.4185+266G>A | |
| XM_017018201.2:c.4188+266G>A | XP_016873690.1:n.4188+266G>A | |
| XM_017018202.1:c.2685+266G>A | XP_016873691.1:n.2685+266G>A | |
| XM_017018204.1:c.2076+266G>A | XP_016873693.1:n.2076+266G>A | |
| XM_024448668.1:c.2487+266G>A | XP_024304436.1:n.2487+266G>A | |
| XR_001747945.2:n.4260+266G>A | ||
| XR_001747946.2:n.4191+266G>A | ||
| XR_002957189.1:n.5122G>A | ||
| NM_000352.6:c.4119+266G>A MANE Select | NP_000343.2:n.4119+266G>A | |
| NM_001287174.2:c.4122+266G>A | NP_001274103.1:n.4122+266G>A | |
| NM_001351295.2:c.4185+266G>A | NP_001338224.1:n.4185+266G>A | |
| NM_001351296.2:c.4119+266G>A | NP_001338225.1:n.4119+266G>A | |
| NM_001351297.2:c.4116+266G>A | NP_001338226.1:n.4116+266G>A | |
| NR_147094.2:n.4414+266G>A | ||
| NM_001287174.3:c.4122+266G>A | NP_001274103.1:n.4122+266G>A |