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.17406783G= , CM000673.2:g.17406783G= | GRCh38 |
| NC_000011.9:g.17428330G= , CM000673.1:g.17428330G= | GRCh37 |
| NC_000011.8:g.17384906G= | NCBI36 |
| NG_008867.1:g.75120C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2737C= | ||
| ENST00000529967.6:n.1507C= | ||
| ENST00000532220.2:n.900C= | ||
| ENST00000642611.2:n.3237C= | ||
| ENST00000645004.2:n.667C= | ||
| ENST00000682051.1:n.3184C= | ||
| ENST00000682110.1:n.3237C= | ||
| ENST00000682140.1:c.3165C= | ENSP00000507829.1:p.Cys1055= | |
| ENST00000682185.1:n.4473C= | ||
| ENST00000682204.1:c.*1306C= | ENSP00000507094.1:n.*1306C= | |
| ENST00000682215.1:n.3234C= | ||
| ENST00000682288.1:c.*1599C= | ENSP00000507506.1:n.*1599C= | |
| ENST00000682442.1:n.3457C= | ||
| ENST00000682528.1:n.3314C= | ||
| ENST00000682673.1:n.3181C= | ||
| ENST00000682805.1:n.3234C= | ||
| ENST00000682965.1:c.3165C= | ENSP00000508229.1:p.Cys1055= | |
| ENST00000683093.1:n.3336C= | ||
| ENST00000683136.1:c.3165C= | ENSP00000507768.1:p.Cys1055= | |
| ENST00000683153.1:n.3393C= | ||
| ENST00000683365.1:n.3339C= | ||
| ENST00000683377.1:n.3237C= | ||
| ENST00000683456.1:c.*305C= | ENSP00000508318.1:n.*305C= | |
| ENST00000683522.1:n.3237C= | ||
| ENST00000683562.1:c.*1337C= | ENSP00000508265.1:n.*1337C= | |
| ENST00000683693.1:n.3314C= | ||
| ENST00000683725.1:c.3168C= | ENSP00000507496.1:p.Cys1056= | |
| ENST00000684010.1:n.3232C= | ||
| ENST00000684157.1:n.3237C= | ||
| ENST00000684253.1:n.3140C= | ||
| ENST00000684288.1:c.*1340C= | ENSP00000507143.1:n.*1340C= | |
| ENST00000684313.1:n.2669C= | ||
| ENST00000684332.1:n.3310C= | ||
| ENST00000684371.1:n.3343C= | ||
| ENST00000684404.1:n.3280C= | ||
| ENST00000684442.1:n.3237C= | ||
| ENST00000684555.1:c.*1380C= | ENSP00000507705.1:n.*1380C= | |
| ENST00000684571.1:c.3009C= | ENSP00000506935.1:p.Cys1003= | |
| ENST00000684593.1:c.*2873C= | ENSP00000507005.1:n.*2873C= | |
| ENST00000684711.1:c.*1564C= | ENSP00000506841.1:n.*1564C= | |
| ENST00000302539.9:c.3171C= | ENSP00000303960.4:p.Cys1057= | |
| ENST00000389817.8:c.3168C= MANE Select | ENSP00000374467.4:p.Cys1056= | |
| ENST00000642271.1:c.3165C= | ENSP00000493749.1:p.Cys1055= | |
| ENST00000642579.1:c.1252C= | ||
| ENST00000642611.1:n.3122C= | ||
| ENST00000642902.1:c.2950C= | ||
| ENST00000643260.1:c.3168C= | ENSP00000494450.1:p.Cys1056= | |
| ENST00000643562.1:c.*1144C= | ENSP00000496124.1:n.*1144C= | |
| ENST00000643925.1:c.1292C= | ||
| ENST00000644447.1:c.1524C= | ENSP00000496282.1:p.Cys508= | |
| ENST00000644484.1:c.*1423C= | ENSP00000493558.1:n.*1423C= | |
| ENST00000644542.1:c.*2972C= | ENSP00000495532.1:n.*2972C= | |
| ENST00000644675.1:c.*1340C= | ENSP00000494567.1:n.*1340C= | |
| ENST00000644757.1:c.*1453C= | ENSP00000495085.1:n.*1453C= | |
| ENST00000644772.1:c.3234C= | ENSP00000494321.1:p.Cys1078= | |
| ENST00000645004.1:n.307C= | ||
| ENST00000645076.1:c.2367C= | ||
| ENST00000645417.1:c.334C= | ||
| ENST00000645744.1:c.*1432C= | ENSP00000494564.1:n.*1432C= | |
| ENST00000645760.1:c.3443C= | ||
| ENST00000645884.1:c.*305C= | ENSP00000495516.1:n.*305C= | |
| ENST00000646003.1:c.*1124C= | ENSP00000495259.1:n.*1124C= | |
| ENST00000646207.1:c.*1635C= | ENSP00000495025.1:n.*1635C= | |
| ENST00000646276.1:c.*1441C= | ENSP00000496070.1:n.*1441C= | |
| ENST00000646592.1:c.2474C= | ||
| ENST00000646902.1:c.3165C= | ENSP00000494101.1:p.Cys1055= | |
| ENST00000646993.1:c.*1564C= | ENSP00000493720.1:n.*1564C= | |
| ENST00000647013.1:c.3174C= | ENSP00000496741.1:n.3174C= | |
| ENST00000647015.1:c.2919C= | ENSP00000495389.1:p.Cys973= | |
| ENST00000647086.1:c.*2898C= | ENSP00000493677.1:n.*2898C= | |
| ENST00000647158.1:c.*1309C= | ENSP00000495744.1:n.*1309C= | |
| ENST00000302539.8:c.3171C= | ENSP00000303960.4:p.Cys1057= | |
| ENST00000389817.7:c.3168C= | ENSP00000374467.3:p.Cys1056= | |
| ENST00000524561.1:n.300C= | ||
| ENST00000526921.5:n.852C= | ||
| ENST00000527905.5:c.*44C= | ENSP00000431653.1:n.*44C= | |
| NM_000352.4:c.3168C= | NP_000343.2:p.Cys1056= | |
| NM_001287174.1:c.3171C= | NP_001274103.1:p.Cys1057= | |
| XM_011520331.1:c.3168C= | XP_011518633.1:p.Cys1056= | |
| XM_011520332.1:c.3171C= | XP_011518634.1:p.Cys1057= | |
| XM_011520333.1:c.1668C= | XP_011518635.1:p.Cys556= | |
| XR_930890.1:n.3234C= | ||
| XR_930891.1:n.3234C= | ||
| XR_930892.1:n.3134C= | ||
| XR_930893.1:n.3131C= | ||
| NM_001351295.1:c.3234C= | NP_001338224.1:p.Cys1078= | |
| NM_001351296.1:c.3168C= | NP_001338225.1:p.Cys1056= | |
| NM_001351297.1:c.3165C= | NP_001338226.1:p.Cys1055= | |
| NR_147094.1:n.3317C= | ||
| XM_017018197.2:c.3237C= | XP_016873686.1:p.Cys1079= | |
| XM_017018199.1:c.3234C= | XP_016873688.1:p.Cys1078= | |
| XM_017018201.2:c.3237C= | XP_016873690.1:p.Cys1079= | |
| XM_017018202.1:c.1734C= | XP_016873691.1:p.Cys578= | |
| XM_017018204.1:c.1125C= | XP_016873693.1:p.Cys375= | |
| XM_024448668.1:c.1536C= | XP_024304436.1:p.Cys512= | |
| XR_001747945.2:n.3309C= | ||
| XR_001747946.2:n.3240C= | ||
| XR_002957189.1:n.3389C= | ||
| NM_000352.6:c.3168C= MANE Select | NP_000343.2:p.Cys1056= | |
| NM_001287174.2:c.3171C= | NP_001274103.1:p.Cys1057= | |
| NM_001351295.2:c.3234C= | NP_001338224.1:p.Cys1078= | |
| NM_001351296.2:c.3168C= | NP_001338225.1:p.Cys1056= | |
| NM_001351297.2:c.3165C= | NP_001338226.1:p.Cys1055= | |
| NR_147094.2:n.3317C= | ||
| NM_001287174.3:c.3171C= | NP_001274103.1:p.Cys1057= |