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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201276854A>C , CM000664.2:g.201276854A>C | GRCh38 |
| NC_000002.11:g.202141577A>C , CM000664.1:g.202141577A>C | GRCh37 |
| NC_000002.10:g.201849822A>C | NCBI36 |
| NG_007497.1:g.48397A>C , LRG_34:g.48397A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.688A>C | ENSP00000397528.2:p.Ser230Arg | |
| ENST00000440732.6:c.688A>C | ENSP00000396869.2:p.Ser230Arg | |
| ENST00000444430.3:c.550+4078A>C | ENSP00000394434.3:n.550+4078A>C | |
| ENST00000447616.6:c.578A>C | ENSP00000388306.2:p.Lys193Thr | |
| ENST00000450491.6:c.334A>C | ENSP00000391709.2:p.Ser112Arg | |
| ENST00000696067.1:c.688A>C | ENSP00000512369.1:p.Ser230Arg | |
| ENST00000696068.1:c.578A>C | ENSP00000512370.1:p.Lys193Thr | |
| ENST00000696069.1:c.643A>C | ENSP00000512371.1:p.Ser215Arg | |
| ENST00000696085.1:c.820A>C | ENSP00000512381.1:p.Ser274Arg | |
| ENST00000696087.1:c.643A>C | ENSP00000512382.1:p.Ser215Arg | |
| ENST00000673742.1:c.688A>C MANE Select | ENSP00000501268.1:p.Ser230Arg | |
| ENST00000264274.13:c.550+4078A>C | ENSP00000264274.9:n.550+4078A>C | |
| ENST00000264275.9:c.739A>C | ENSP00000264275.5:p.Ser247Arg | |
| ENST00000323492.11:c.643A>C | ENSP00000325722.7:p.Ser215Arg | |
| ENST00000339403.6:n.773A>C | ||
| ENST00000358485.8:c.865A>C | ENSP00000351273.4:p.Ser289Arg | |
| ENST00000392258.7:c.623A>C | ENSP00000376087.3:p.Lys208Thr | |
| ENST00000392263.6:c.643A>C | ENSP00000376091.2:p.Ser215Arg | |
| ENST00000392266.7:c.643A>C | ENSP00000376094.4:p.Ser215Arg | |
| ENST00000424461.5:c.167A>C | ENSP00000390346.1:p.Lys56Thr | |
| ENST00000432109.6:c.688A>C | ENSP00000412523.2:p.Ser230Arg | |
| ENST00000444430.2:c.139+4078A>C | ENSP00000394434.2:n.139+4078A>C | |
| ENST00000447616.5:c.578A>C | ENSP00000388306.1:p.Lys193Thr | |
| ENST00000450491.5:c.334A>C | ENSP00000391709.1:p.Ser112Arg | |
| NM_001080124.1:c.643A>C | NP_001073593.1:p.Ser215Arg | |
| NM_001080125.1:c.865A>C | NP_001073594.1:p.Ser289Arg | |
| NM_001228.4:c.739A>C , LRG_34t1:c.739A>C | NP_001219.2:p.Ser247Arg | |
| NM_033355.3:c.688A>C , LRG_34t2:c.688A>C | NP_203519.1:p.Ser230Arg | |
| NM_033356.3:c.643A>C | NP_203520.1:p.Ser215Arg | |
| NM_033358.3:c.623A>C | NP_203522.1:p.Lys208Thr | |
| NR_111983.1:n.1066A>C | ||
| XM_005246885.1:c.820A>C | XP_005246942.1:p.Ser274Arg | |
| XM_005246886.1:c.688A>C | XP_005246943.1:p.Ser230Arg | |
| XM_005246887.1:c.688A>C | XP_005246944.1:p.Ser230Arg | |
| XM_005246888.1:c.688A>C | XP_005246945.1:p.Ser230Arg | |
| XM_005246889.1:c.688A>C | XP_005246946.1:p.Ser230Arg | |
| XM_005246890.2:c.688A>C | XP_005246947.1:p.Ser230Arg | |
| XM_005246891.3:c.688A>C | XP_005246948.1:p.Ser230Arg | |
| XM_005246892.1:c.643A>C | XP_005246949.1:p.Ser215Arg | |
| XM_005246893.2:c.800A>C | XP_005246950.1:p.Lys267Thr | |
| XM_005246894.2:c.91A>C | XP_005246951.1:p.Ser31Arg | |
| XM_005246895.2:c.755A>C | XP_005246952.1:p.Lys252Thr | |
| XM_006712789.1:c.688A>C | XP_006712852.1:p.Ser230Arg | |
| XM_006712790.2:c.688A>C | XP_006712853.1:p.Ser230Arg | |
| XM_006712791.1:c.727+4078A>C | XP_006712854.1:n.727+4078A>C | |
| XM_006712793.2:c.623A>C | XP_006712856.1:p.Lys208Thr | |
| XM_011511968.1:c.865A>C | XP_011510270.1:p.Ser289Arg | |
| XM_011511969.1:c.253A>C | XP_011510271.1:p.Ser85Arg | |
| XM_011511970.1:c.800A>C | XP_011510272.1:p.Lys267Thr | |
| XR_923035.1:n.821A>C | ||
| XM_005246885.2:c.820A>C | XP_005246942.1:p.Ser274Arg | |
| XM_005246886.2:c.688A>C | XP_005246943.1:p.Ser230Arg | |
| XM_005246887.2:c.688A>C | XP_005246944.1:p.Ser230Arg | |
| XM_005246888.2:c.688A>C | XP_005246945.1:p.Ser230Arg | |
| XM_005246889.2:c.688A>C | XP_005246946.1:p.Ser230Arg | |
| XM_005246890.4:c.688A>C | XP_005246947.1:p.Ser230Arg | |
| XM_005246891.5:c.688A>C | XP_005246948.1:p.Ser230Arg | |
| XM_005246892.2:c.643A>C | XP_005246949.1:p.Ser215Arg | |
| XM_005246893.3:c.800A>C | XP_005246950.1:p.Lys267Thr | |
| XM_005246894.4:c.91A>C | XP_005246951.1:p.Ser31Arg | |
| XM_005246895.3:c.755A>C | XP_005246952.1:p.Lys252Thr | |
| XM_006712789.2:c.688A>C | XP_006712852.1:p.Ser230Arg | |
| XM_006712790.4:c.688A>C | XP_006712853.1:p.Ser230Arg | |
| XM_006712793.3:c.623A>C | XP_006712856.1:p.Lys208Thr | |
| XM_011511969.2:c.253A>C | XP_011510271.1:p.Ser85Arg | |
| XR_001738971.1:n.899A>C | ||
| NM_001080124.2:c.643A>C | NP_001073593.1:p.Ser215Arg | |
| NM_001080125.2:c.865A>C | NP_001073594.1:p.Ser289Arg | |
| NM_001372051.1:c.688A>C MANE Select | NP_001358980.1:p.Ser230Arg | |
| NM_033356.4:c.643A>C | NP_203520.1:p.Ser215Arg | |
| NM_033358.4:c.623A>C | NP_203522.1:p.Lys208Thr | |
| NR_111983.2:n.1062A>C | ||
| NM_001400642.1:c.820A>C | NP_001387571.1:p.Ser274Arg | |
| NM_001400645.1:c.721A>C | NP_001387574.1:p.Ser241Arg | |
| NM_001400648.1:c.688A>C | NP_001387577.1:p.Ser230Arg | |
| NM_001400651.1:c.688A>C | NP_001387580.1:p.Ser230Arg | |
| NM_001400653.1:c.688A>C | NP_001387582.1:p.Ser230Arg | |
| NM_001400654.1:c.688A>C | NP_001387583.1:p.Ser230Arg | |
| NM_001400655.1:c.688A>C | NP_001387584.1:p.Ser230Arg | |
| NM_001400656.1:c.688A>C | NP_001387585.1:p.Ser230Arg | |
| NM_001400657.1:c.688A>C | NP_001387586.1:p.Ser230Arg | |
| NM_001400658.1:c.643A>C | NP_001387587.1:p.Ser215Arg | |
| NM_001400659.1:c.643A>C | NP_001387588.1:p.Ser215Arg | |
| NM_001400660.1:c.643A>C | NP_001387589.1:p.Ser215Arg | |
| NM_001400661.1:c.643A>C | NP_001387590.1:p.Ser215Arg | |
| NM_001400662.1:c.643A>C | NP_001387591.1:p.Ser215Arg | |
| NM_001400663.1:c.643A>C | NP_001387592.1:p.Ser215Arg | |
| NM_001400664.1:c.619A>C | NP_001387593.1:p.Ser207Arg | |
| NM_001400665.1:c.727+4078A>C | NP_001387594.1:n.727+4078A>C | |
| NM_001400666.1:c.595+3912A>C | NP_001387595.1:n.595+3912A>C | |
| NM_001400667.1:c.550+4078A>C | NP_001387596.1:n.550+4078A>C | |
| NM_001400668.1:c.550+4078A>C | NP_001387597.1:n.550+4078A>C | |
| NM_001400669.1:c.379A>C | NP_001387598.1:p.Ser127Arg | |
| NM_001400670.1:c.688A>C | NP_001387599.1:p.Ser230Arg | |
| NM_001400671.1:c.91A>C | NP_001387600.1:p.Ser31Arg | |
| NM_001400672.1:c.91A>C | NP_001387601.1:p.Ser31Arg | |
| NM_001400673.1:c.91A>C | NP_001387602.1:p.Ser31Arg | |
| NM_001400674.1:c.73A>C | NP_001387603.1:p.Ser25Arg | |
| NM_001400675.1:c.46A>C | NP_001387604.1:p.Ser16Arg | |
| NM_001400676.1:c.46A>C | NP_001387605.1:p.Ser16Arg | |
| NM_001400677.1:c.46A>C | NP_001387606.1:p.Ser16Arg | |
| NM_001400678.1:c.46A>C | NP_001387607.1:p.Ser16Arg | |
| NM_001400679.1:c.623A>C | NP_001387608.1:p.Lys208Thr | |
| NM_001400680.1:c.73A>C | NP_001387609.1:p.Ser25Arg | |
| NM_001400750.1:c.91A>C | NP_001387679.1:p.Ser31Arg | |
| NM_001400751.1:c.46A>C | NP_001387680.1:p.Ser16Arg | |
| NR_174564.1:n.641A>C | ||
| NR_174565.1:n.771A>C | ||
| NR_174581.1:n.797A>C | ||
| NR_174583.1:n.903A>C | ||
| NR_174584.1:n.952A>C | ||
| NR_174585.1:n.834A>C | ||
| NR_174586.1:n.808A>C | ||
| NR_174588.1:n.971A>C | ||
| NR_174589.1:n.766A>C | ||
| NR_174590.1:n.858A>C | ||
| NR_174591.1:n.789A>C | ||
| NR_174592.1:n.1134A>C | ||
| NR_174593.1:n.932A>C | ||
| NR_174594.1:n.975A>C | ||
| NR_174595.1:n.890A>C | ||
| NR_174596.1:n.727A>C | ||
| NR_174598.1:n.1085A>C | ||
| NR_174599.1:n.719+1901A>C | ||
| NR_174600.1:n.997A>C | ||
| NR_174601.1:n.922A>C | ||
| NR_174602.1:n.792A>C |