SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396860G= , CM000673.2:g.17396860G= | GRCh38 |
| NC_000011.9:g.17418407G= , CM000673.1:g.17418407G= | GRCh37 |
| NC_000011.8:g.17374983G= | NCBI36 |
| NG_008867.1:g.85043C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3720+56C= | ||
| ENST00000528374.2:c.710+56C= | ||
| ENST00000529967.6:n.2458+56C= | ||
| ENST00000532220.2:n.2423C= | ||
| ENST00000642611.2:n.4390C= | ||
| ENST00000644057.2:n.562+56C= | ||
| ENST00000645004.2:n.1618+56C= | ||
| ENST00000682051.1:n.4281+56C= | ||
| ENST00000682110.1:n.4334+56C= | ||
| ENST00000682140.1:c.3985+333C= | ENSP00000507829.1:n.3985+333C= | |
| ENST00000682185.1:n.5424+56C= | ||
| ENST00000682204.1:c.*2257+56C= | ENSP00000507094.1:n.*2257+56C= | |
| ENST00000682215.1:n.4701+56C= | ||
| ENST00000682288.1:c.*2550+56C= | ENSP00000507506.1:n.*2550+56C= | |
| ENST00000682442.1:n.4554+56C= | ||
| ENST00000682528.1:n.4411+56C= | ||
| ENST00000682673.1:n.4278+56C= | ||
| ENST00000682805.1:n.4739+18C= | ||
| ENST00000682965.1:c.*541+56C= | ENSP00000508229.1:n.*541+56C= | |
| ENST00000683093.1:n.4489C= | ||
| ENST00000683136.1:c.4002+56C= | ENSP00000507768.1:n.4002+56C= | |
| ENST00000683153.1:n.4376+56C= | ||
| ENST00000683365.1:n.4436+56C= | ||
| ENST00000683377.1:n.4334+56C= | ||
| ENST00000683456.1:c.*1256+56C= | ENSP00000508318.1:n.*1256+56C= | |
| ENST00000683522.1:n.4334+56C= | ||
| ENST00000683562.1:c.*2288+56C= | ENSP00000508265.1:n.*2288+56C= | |
| ENST00000683693.1:n.4837C= | ||
| ENST00000683725.1:c.4119+56C= | ENSP00000507496.1:n.4119+56C= | |
| ENST00000684010.1:n.4329+56C= | ||
| ENST00000684157.1:n.4390C= | ||
| ENST00000684253.1:n.4237+56C= | ||
| ENST00000684288.1:c.*2291+56C= | ENSP00000507143.1:n.*2291+56C= | |
| ENST00000684313.1:n.3766+56C= | ||
| ENST00000684332.1:n.4407+56C= | ||
| ENST00000684371.1:n.4440+56C= | ||
| ENST00000684404.1:n.4433C= | ||
| ENST00000684442.1:n.4558+56C= | ||
| ENST00000684555.1:c.*2331+56C= | ENSP00000507705.1:n.*2331+56C= | |
| ENST00000684571.1:c.3960+56C= | ENSP00000506935.1:n.3960+56C= | |
| ENST00000684593.1:c.*3824+56C= | ENSP00000507005.1:n.*3824+56C= | |
| ENST00000684711.1:c.*2515+56C= | ENSP00000506841.1:n.*2515+56C= | |
| ENST00000302539.9:c.4122+56C= | ENSP00000303960.4:n.4122+56C= | |
| ENST00000389817.8:c.4119+56C= MANE Select | ENSP00000374467.4:n.4119+56C= | |
| ENST00000642271.1:c.4116+56C= | ENSP00000493749.1:n.4116+56C= | |
| ENST00000642579.1:c.2173+56C= | ||
| ENST00000642611.1:n.4275C= | ||
| ENST00000642902.1:c.3901+56C= | ||
| ENST00000643260.1:c.4119+56C= | ENSP00000494450.1:n.4119+56C= | |
| ENST00000643562.1:c.*2241+56C= | ENSP00000496124.1:n.*2241+56C= | |
| ENST00000643925.1:c.2759+56C= | ||
| ENST00000644057.1:n.196+56C= | ||
| ENST00000644484.1:c.*2576C= | ENSP00000493558.1:n.*2576C= | |
| ENST00000644675.1:c.*2291+56C= | ENSP00000494567.1:n.*2291+56C= | |
| ENST00000644757.1:c.*2606C= | ENSP00000495085.1:n.*2606C= | |
| ENST00000644772.1:c.4185+56C= | ENSP00000494321.1:n.4185+56C= | |
| ENST00000645004.1:n.1812+18C= | ||
| ENST00000645076.1:c.3318+56C= | ||
| ENST00000645417.1:c.1307+56C= | ||
| ENST00000645744.1:c.*2955C= | ENSP00000494564.1:n.*2955C= | |
| ENST00000645760.1:c.4540+56C= | ||
| ENST00000645884.1:c.*1402+56C= | ENSP00000495516.1:n.*1402+56C= | |
| ENST00000646003.1:c.*2221+56C= | ENSP00000495259.1:n.*2221+56C= | |
| ENST00000646207.1:c.*2956+56C= | ENSP00000495025.1:n.*2956+56C= | |
| ENST00000646276.1:c.*2594C= | ENSP00000496070.1:n.*2594C= | |
| ENST00000646592.1:c.3425+56C= | ||
| ENST00000646902.1:c.4086+56C= | ENSP00000494101.1:n.4086+56C= | |
| ENST00000646993.1:c.*2661+56C= | ENSP00000493720.1:n.*2661+56C= | |
| ENST00000647013.1:c.4125+56C= | ENSP00000496741.1:n.4125+56C= | |
| ENST00000647015.1:c.3870+56C= | ENSP00000495389.1:n.3870+56C= | |
| ENST00000647086.1:c.*3705+56C= | ENSP00000493677.1:n.*3705+56C= | |
| ENST00000647158.1:c.*2406+56C= | ENSP00000495744.1:n.*2406+56C= | |
| ENST00000302539.8:c.4122+56C= | ENSP00000303960.4:n.4122+56C= | |
| ENST00000389817.7:c.4119+56C= | ENSP00000374467.3:n.4119+56C= | |
| ENST00000527905.5:c.*1197C= | ENSP00000431653.1:n.*1197C= | |
| ENST00000528374.1:c.601+56C= | ||
| ENST00000532220.1:n.593+56C= | ||
| NM_000352.4:c.4119+56C= | NP_000343.2:n.4119+56C= | |
| NM_001287174.1:c.4122+56C= | NP_001274103.1:n.4122+56C= | |
| XM_011520331.1:c.4119+56C= | XP_011518633.1:n.4119+56C= | |
| XM_011520332.1:c.4122+56C= | XP_011518634.1:n.4122+56C= | |
| XM_011520333.1:c.2619+56C= | XP_011518635.1:n.2619+56C= | |
| XR_930890.1:n.4185+56C= | ||
| NM_001351295.1:c.4185+56C= | NP_001338224.1:n.4185+56C= | |
| NM_001351296.1:c.4119+56C= | NP_001338225.1:n.4119+56C= | |
| NM_001351297.1:c.4116+56C= | NP_001338226.1:n.4116+56C= | |
| NR_147094.1:n.4414+56C= | ||
| XM_017018197.2:c.4188+56C= | XP_016873686.1:n.4188+56C= | |
| XM_017018199.1:c.4185+56C= | XP_016873688.1:n.4185+56C= | |
| XM_017018201.2:c.4188+56C= | XP_016873690.1:n.4188+56C= | |
| XM_017018202.1:c.2685+56C= | XP_016873691.1:n.2685+56C= | |
| XM_017018204.1:c.2076+56C= | XP_016873693.1:n.2076+56C= | |
| XM_024448668.1:c.2487+56C= | XP_024304436.1:n.2487+56C= | |
| XR_001747945.2:n.4260+56C= | ||
| XR_001747946.2:n.4191+56C= | ||
| XR_002957189.1:n.4912C= | ||
| NM_000352.6:c.4119+56C= MANE Select | NP_000343.2:n.4119+56C= | |
| NM_001287174.2:c.4122+56C= | NP_001274103.1:n.4122+56C= | |
| NM_001351295.2:c.4185+56C= | NP_001338224.1:n.4185+56C= | |
| NM_001351296.2:c.4119+56C= | NP_001338225.1:n.4119+56C= | |
| NM_001351297.2:c.4116+56C= | NP_001338226.1:n.4116+56C= | |
| NR_147094.2:n.4414+56C= | ||
| NM_001287174.3:c.4122+56C= | NP_001274103.1:n.4122+56C= |