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.17397147C= , CM000673.2:g.17397147C= | GRCh38 |
| NC_000011.9:g.17418694C= , CM000673.1:g.17418694C= | GRCh37 |
| NC_000011.8:g.17375270C= | NCBI36 |
| NG_008867.1:g.84756G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3489G= | ||
| ENST00000528374.2:c.567+46G= | ||
| ENST00000529967.6:n.2327+46G= | ||
| ENST00000532220.2:n.2136G= | ||
| ENST00000642611.2:n.4103G= | ||
| ENST00000644057.2:n.431+46G= | ||
| ENST00000645004.2:n.1487+46G= | ||
| ENST00000682051.1:n.4050G= | ||
| ENST00000682110.1:n.4103G= | ||
| ENST00000682140.1:c.3985+46G= | ENSP00000507829.1:n.3985+46G= | |
| ENST00000682185.1:n.5293+46G= | ||
| ENST00000682204.1:c.*2126+46G= | ENSP00000507094.1:n.*2126+46G= | |
| ENST00000682215.1:n.4470G= | ||
| ENST00000682288.1:c.*2419+46G= | ENSP00000507506.1:n.*2419+46G= | |
| ENST00000682442.1:n.4323G= | ||
| ENST00000682528.1:n.4180G= | ||
| ENST00000682673.1:n.4047G= | ||
| ENST00000682805.1:n.4470G= | ||
| ENST00000682965.1:c.*410+46G= | ENSP00000508229.1:n.*410+46G= | |
| ENST00000683093.1:n.4202G= | ||
| ENST00000683136.1:c.3871+46G= | ENSP00000507768.1:n.3871+46G= | |
| ENST00000683153.1:n.4145G= | ||
| ENST00000683365.1:n.4205G= | ||
| ENST00000683377.1:n.4103G= | ||
| ENST00000683456.1:c.*1125+46G= | ENSP00000508318.1:n.*1125+46G= | |
| ENST00000683522.1:n.4103G= | ||
| ENST00000683562.1:c.*2157+46G= | ENSP00000508265.1:n.*2157+46G= | |
| ENST00000683693.1:n.4550G= | ||
| ENST00000683725.1:c.3988+46G= | ENSP00000507496.1:n.3988+46G= | |
| ENST00000684010.1:n.4098G= | ||
| ENST00000684157.1:n.4103G= | ||
| ENST00000684253.1:n.4006G= | ||
| ENST00000684288.1:c.*2160+46G= | ENSP00000507143.1:n.*2160+46G= | |
| ENST00000684313.1:n.3535G= | ||
| ENST00000684332.1:n.4176G= | ||
| ENST00000684371.1:n.4209G= | ||
| ENST00000684404.1:n.4146G= | ||
| ENST00000684442.1:n.4427+46G= | ||
| ENST00000684555.1:c.*2200+46G= | ENSP00000507705.1:n.*2200+46G= | |
| ENST00000684571.1:c.3829+46G= | ENSP00000506935.1:n.3829+46G= | |
| ENST00000684593.1:c.*3693+46G= | ENSP00000507005.1:n.*3693+46G= | |
| ENST00000684711.1:c.*2384+46G= | ENSP00000506841.1:n.*2384+46G= | |
| ENST00000302539.9:c.3991+46G= | ENSP00000303960.4:n.3991+46G= | |
| ENST00000389817.8:c.3988+46G= MANE Select | ENSP00000374467.4:n.3988+46G= | |
| ENST00000642271.1:c.3985+46G= | ENSP00000493749.1:n.3985+46G= | |
| ENST00000642579.1:c.2072+46G= | ||
| ENST00000642611.1:n.3988G= | ||
| ENST00000642902.1:c.3770+46G= | ||
| ENST00000643260.1:c.3988+46G= | ENSP00000494450.1:n.3988+46G= | |
| ENST00000643562.1:c.*2010G= | ENSP00000496124.1:n.*2010G= | |
| ENST00000643925.1:c.2528G= | ||
| ENST00000644484.1:c.*2289G= | ENSP00000493558.1:n.*2289G= | |
| ENST00000644675.1:c.*2160+46G= | ENSP00000494567.1:n.*2160+46G= | |
| ENST00000644757.1:c.*2319G= | ENSP00000495085.1:n.*2319G= | |
| ENST00000644772.1:c.4054+46G= | ENSP00000494321.1:n.4054+46G= | |
| ENST00000645004.1:n.1543G= | ||
| ENST00000645076.1:c.3187+46G= | ||
| ENST00000645417.1:c.1176+46G= | ||
| ENST00000645744.1:c.*2668G= | ENSP00000494564.1:n.*2668G= | |
| ENST00000645760.1:c.4309G= | ||
| ENST00000645884.1:c.*1171G= | ENSP00000495516.1:n.*1171G= | |
| ENST00000646003.1:c.*1990G= | ENSP00000495259.1:n.*1990G= | |
| ENST00000646207.1:c.*2825+46G= | ENSP00000495025.1:n.*2825+46G= | |
| ENST00000646276.1:c.*2307G= | ENSP00000496070.1:n.*2307G= | |
| ENST00000646592.1:c.3294+46G= | ||
| ENST00000646902.1:c.3985+46G= | ENSP00000494101.1:n.3985+46G= | |
| ENST00000646993.1:c.*2430G= | ENSP00000493720.1:n.*2430G= | |
| ENST00000647013.1:c.3994+46G= | ENSP00000496741.1:n.3994+46G= | |
| ENST00000647015.1:c.3739+46G= | ENSP00000495389.1:n.3739+46G= | |
| ENST00000647086.1:c.*3604+46G= | ENSP00000493677.1:n.*3604+46G= | |
| ENST00000647158.1:c.*2175G= | ENSP00000495744.1:n.*2175G= | |
| ENST00000302539.8:c.3991+46G= | ENSP00000303960.4:n.3991+46G= | |
| ENST00000389817.7:c.3988+46G= | ENSP00000374467.3:n.3988+46G= | |
| ENST00000527905.5:c.*910G= | ENSP00000431653.1:n.*910G= | |
| ENST00000528374.1:c.458+46G= | ||
| ENST00000531137.1:n.453G= | ||
| ENST00000531891.1:c.356+46G= | ||
| ENST00000532220.1:n.362G= | ||
| NM_000352.4:c.3988+46G= | NP_000343.2:n.3988+46G= | |
| NM_001287174.1:c.3991+46G= | NP_001274103.1:n.3991+46G= | |
| XM_011520331.1:c.3988+46G= | XP_011518633.1:n.3988+46G= | |
| XM_011520332.1:c.3991+46G= | XP_011518634.1:n.3991+46G= | |
| XM_011520333.1:c.2488+46G= | XP_011518635.1:n.2488+46G= | |
| XR_930890.1:n.4054+46G= | ||
| NM_001351295.1:c.4054+46G= | NP_001338224.1:n.4054+46G= | |
| NM_001351296.1:c.3988+46G= | NP_001338225.1:n.3988+46G= | |
| NM_001351297.1:c.3985+46G= | NP_001338226.1:n.3985+46G= | |
| NR_147094.1:n.4183G= | ||
| XM_017018197.2:c.4057+46G= | XP_016873686.1:n.4057+46G= | |
| XM_017018199.1:c.4054+46G= | XP_016873688.1:n.4054+46G= | |
| XM_017018201.2:c.4057+46G= | XP_016873690.1:n.4057+46G= | |
| XM_017018202.1:c.2554+46G= | XP_016873691.1:n.2554+46G= | |
| XM_017018204.1:c.1945+46G= | XP_016873693.1:n.1945+46G= | |
| XM_024448668.1:c.2356+46G= | XP_024304436.1:n.2356+46G= | |
| XR_001747945.2:n.4129+46G= | ||
| XR_001747946.2:n.4060+46G= | ||
| XR_002957189.1:n.4625G= | ||
| NM_000352.6:c.3988+46G= MANE Select | NP_000343.2:n.3988+46G= | |
| NM_001287174.2:c.3991+46G= | NP_001274103.1:n.3991+46G= | |
| NM_001351295.2:c.4054+46G= | NP_001338224.1:n.4054+46G= | |
| NM_001351296.2:c.3988+46G= | NP_001338225.1:n.3988+46G= | |
| NM_001351297.2:c.3985+46G= | NP_001338226.1:n.3985+46G= | |
| NR_147094.2:n.4183G= | ||
| NM_001287174.3:c.3991+46G= | NP_001274103.1:n.3991+46G= |