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_000011.10:g.17428602G>T , CM000673.2:g.17428602G>T | GRCh38 |
| NC_000011.9:g.17450149G>T , CM000673.1:g.17450149G>T | GRCh37 |
| NC_000011.8:g.17406725G>T | NCBI36 |
| NG_008867.1:g.53301C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1555C>A | ||
| ENST00000642611.2:n.1952C>A | ||
| ENST00000682051.1:n.1899C>A | ||
| ENST00000682110.1:n.1952C>A | ||
| ENST00000682140.1:c.1883C>A | ENSP00000507829.1:p.Pro628His | |
| ENST00000682185.1:n.3191C>A | ||
| ENST00000682204.1:c.*24C>A | ENSP00000507094.1:n.*24C>A | |
| ENST00000682215.1:n.1952C>A | ||
| ENST00000682288.1:c.*314C>A | ENSP00000507506.1:n.*314C>A | |
| ENST00000682442.1:n.2073C>A | ||
| ENST00000682528.1:n.1952C>A | ||
| ENST00000682673.1:n.1899C>A | ||
| ENST00000682805.1:n.1952C>A | ||
| ENST00000682965.1:c.1883C>A | ENSP00000508229.1:p.Pro628His | |
| ENST00000683093.1:n.2054C>A | ||
| ENST00000683136.1:c.1883C>A | ENSP00000507768.1:p.Pro628His | |
| ENST00000683153.1:n.1952C>A | ||
| ENST00000683253.1:n.2968C>A | ||
| ENST00000683365.1:n.2054C>A | ||
| ENST00000683377.1:n.1952C>A | ||
| ENST00000683456.1:c.1883C>A | ENSP00000508318.1:p.Pro628His | |
| ENST00000683522.1:n.1952C>A | ||
| ENST00000683562.1:c.*55C>A | ENSP00000508265.1:n.*55C>A | |
| ENST00000683693.1:n.1952C>A | ||
| ENST00000683725.1:c.1886C>A | ENSP00000507496.1:p.Pro629His | |
| ENST00000684010.1:n.1952C>A | ||
| ENST00000684157.1:n.1952C>A | ||
| ENST00000684253.1:n.1858C>A | ||
| ENST00000684288.1:c.*55C>A | ENSP00000507143.1:n.*55C>A | |
| ENST00000684313.1:n.1724-11640C>A | ||
| ENST00000684332.1:n.2025C>A | ||
| ENST00000684371.1:n.1899C>A | ||
| ENST00000684404.1:n.1952C>A | ||
| ENST00000684442.1:n.1952C>A | ||
| ENST00000684555.1:c.*95C>A | ENSP00000507705.1:n.*95C>A | |
| ENST00000684571.1:c.1727C>A | ENSP00000506935.1:p.Pro576His | |
| ENST00000684593.1:c.*1591C>A | ENSP00000507005.1:n.*1591C>A | |
| ENST00000684711.1:c.*282C>A | ENSP00000506841.1:n.*282C>A | |
| ENST00000302539.9:c.1886C>A | ENSP00000303960.4:p.Pro629His | |
| ENST00000389817.8:c.1886C>A MANE Select | ENSP00000374467.4:p.Pro629His | |
| ENST00000532728.6:c.1467C>A | ||
| ENST00000642271.1:c.1883C>A | ENSP00000493749.1:p.Pro628His | |
| ENST00000642611.1:n.1837C>A | ||
| ENST00000642902.1:c.1721C>A | ||
| ENST00000643260.1:c.1883C>A | ENSP00000494450.1:p.Pro628His | |
| ENST00000643562.1:c.1886C>A | ENSP00000496124.1:p.Pro629His | |
| ENST00000644447.1:c.239C>A | ENSP00000496282.1:p.Pro80His | |
| ENST00000644472.1:c.*247C>A | ENSP00000495378.1:n.*247C>A | |
| ENST00000644484.1:c.*95C>A | ENSP00000493558.1:n.*95C>A | |
| ENST00000644542.1:c.*1588C>A | ENSP00000495532.1:n.*1588C>A | |
| ENST00000644649.1:c.1056C>A | ||
| ENST00000644675.1:c.*55C>A | ENSP00000494567.1:n.*55C>A | |
| ENST00000644757.1:c.*188C>A | ENSP00000495085.1:n.*188C>A | |
| ENST00000644772.1:c.1886C>A | ENSP00000494321.1:p.Pro629His | |
| ENST00000645076.1:c.1138C>A | ||
| ENST00000645744.1:c.*247C>A | ENSP00000494564.1:n.*247C>A | |
| ENST00000645760.1:c.2161C>A | ||
| ENST00000645884.1:c.1883C>A | ENSP00000495516.1:p.Pro628His | |
| ENST00000646003.1:c.*24C>A | ENSP00000495259.1:n.*24C>A | |
| ENST00000646207.1:c.*247C>A | ENSP00000495025.1:n.*247C>A | |
| ENST00000646276.1:c.*156C>A | ENSP00000496070.1:n.*156C>A | |
| ENST00000646592.1:c.950C>A | ||
| ENST00000646902.1:c.1883C>A | ENSP00000494101.1:p.Pro628His | |
| ENST00000646993.1:c.*282C>A | ENSP00000493720.1:n.*282C>A | |
| ENST00000647013.1:c.1889C>A | ENSP00000496741.1:n.1889C>A | |
| ENST00000647015.1:c.1672-197C>A | ENSP00000495389.1:n.1672-197C>A | |
| ENST00000647086.1:c.*1613C>A | ENSP00000493677.1:n.*1613C>A | |
| ENST00000647158.1:c.*24C>A | ENSP00000495744.1:n.*24C>A | |
| ENST00000302539.8:c.1886C>A | ENSP00000303960.4:p.Pro629His | |
| ENST00000389817.7:c.1886C>A | ENSP00000374467.3:p.Pro629His | |
| ENST00000527905.5:c.1856C>A | ENSP00000431653.1:p.Pro619His | |
| NM_000352.4:c.1886C>A | NP_000343.2:p.Pro629His | |
| NM_001287174.1:c.1886C>A | NP_001274103.1:p.Pro629His | |
| XM_011520331.1:c.1883C>A | XP_011518633.1:p.Pro628His | |
| XM_011520332.1:c.1886C>A | XP_011518634.1:p.Pro629His | |
| XM_011520333.1:c.383C>A | XP_011518635.1:p.Pro128His | |
| XM_011520334.1:c.1886C>A | XP_011518636.1:p.Pro629His | |
| XR_930890.1:n.1949C>A | ||
| XR_930891.1:n.1949C>A | ||
| XR_930892.1:n.1949C>A | ||
| XR_930893.1:n.1949C>A | ||
| NM_001351295.1:c.1886C>A | NP_001338224.1:p.Pro629His | |
| NM_001351296.1:c.1883C>A | NP_001338225.1:p.Pro628His | |
| NM_001351297.1:c.1883C>A | NP_001338226.1:p.Pro628His | |
| NR_147094.1:n.1952C>A | ||
| XM_017018197.2:c.1886C>A | XP_016873686.1:p.Pro629His | |
| XM_017018199.1:c.1883C>A | XP_016873688.1:p.Pro628His | |
| XM_017018201.2:c.1886C>A | XP_016873690.1:p.Pro629His | |
| XM_017018202.1:c.383C>A | XP_016873691.1:p.Pro128His | |
| XM_017018204.1:c.-158C>A | XP_016873693.1:n.-158C>A | |
| XM_024448668.1:c.251C>A | XP_024304436.1:p.Pro84His | |
| XR_001747945.2:n.1958C>A | ||
| XR_001747946.2:n.1958C>A | ||
| XR_002957189.1:n.1958C>A | ||
| NM_000352.6:c.1886C>A MANE Select | NP_000343.2:p.Pro629His | |
| NM_001287174.2:c.1886C>A | NP_001274103.1:p.Pro629His | |
| NM_001351295.2:c.1886C>A | NP_001338224.1:p.Pro629His | |
| NM_001351296.2:c.1883C>A | NP_001338225.1:p.Pro628His | |
| NM_001351297.2:c.1883C>A | NP_001338226.1:p.Pro628His | |
| NR_147094.2:n.1952C>A | ||
| NM_001287174.3:c.1886C>A | NP_001274103.1:p.Pro629His |