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_000009.12:g.131522150C= , CM000671.2:g.131522150C= | GRCh38 |
| NC_000009.11:g.134397537C= , CM000671.1:g.134397537C= | GRCh37 |
| NC_000009.10:g.133387358C= | NCBI36 |
| NG_008896.1:g.24249C= | |
| NG_008896.2:g.24249C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1767C= | ENSP00000343034.7:p.His589= | |
| ENST00000404875.7:n.2469C= | ||
| ENST00000423007.6:c.1986C= | ENSP00000404119.2:p.His662= | |
| ENST00000677295.2:c.*2273C= | ENSP00000504346.2:n.*2273C= | |
| ENST00000678264.2:c.*2112C= | ENSP00000503157.2:n.*2112C= | |
| ENST00000682070.1:n.2291-52C= | ||
| ENST00000682813.1:n.2333C= | ||
| ENST00000683392.1:n.4573-52C= | ||
| ENST00000683712.1:n.2334C= | ||
| ENST00000683900.1:n.3829C= | ||
| ENST00000684062.1:n.2595C= | ||
| ENST00000684579.1:n.3775C= | ||
| ENST00000684679.1:n.1156C= | ||
| ENST00000341012.12:c.1767C= | ENSP00000343034.7:p.His589= | |
| ENST00000372220.5:c.798C= | ENSP00000361294.5:p.His266= | |
| ENST00000372228.9:c.1995C= | ENSP00000361302.3:p.His665= | |
| ENST00000402686.8:c.1929C= MANE Select | ENSP00000385797.4:p.His643= | |
| ENST00000676640.1:c.1929C= | ENSP00000503281.1:p.His643= | |
| ENST00000676803.1:c.990C= | ENSP00000503093.1:p.His330= | |
| ENST00000676835.1:c.*1144C= | ENSP00000502911.1:n.*1144C= | |
| ENST00000677029.1:c.1473C= | ENSP00000502936.1:p.His491= | |
| ENST00000677099.1:c.*1639C= | ENSP00000504553.1:n.*1639C= | |
| ENST00000677216.1:c.1578C= | ENSP00000503772.1:p.His526= | |
| ENST00000677221.1:n.954C= | ||
| ENST00000677295.1:c.*1203-52C= | ENSP00000504346.1:n.*1203-52C= | |
| ENST00000677444.1:c.1874C= | ||
| ENST00000677586.1:n.1296C= | ||
| ENST00000677626.1:c.1578C= | ENSP00000503552.1:p.His526= | |
| ENST00000677853.1:c.*937C= | ENSP00000503488.1:n.*937C= | |
| ENST00000678202.1:n.1088C= | ||
| ENST00000678264.1:c.*1306C= | ENSP00000503157.1:n.*1306C= | |
| ENST00000678303.1:c.1839C= | ENSP00000503696.1:p.His613= | |
| ENST00000678366.1:c.*2178C= | ENSP00000504353.1:n.*2178C= | |
| ENST00000678546.1:c.*1874C= | ENSP00000503062.1:n.*1874C= | |
| ENST00000678548.1:c.*2068C= | ENSP00000503934.1:n.*2068C= | |
| ENST00000678626.1:n.1765C= | ||
| ENST00000678739.1:c.*2147-52C= | ENSP00000503806.1:n.*2147-52C= | |
| ENST00000678833.1:c.*1681C= | ENSP00000503893.1:n.*1681C= | |
| ENST00000679023.1:c.1767C= | ENSP00000503718.1:p.His589= | |
| ENST00000679076.1:c.1548C= | ||
| ENST00000679111.1:c.*685C= | ENSP00000504257.1:n.*685C= | |
| ENST00000679189.1:c.1578C= | ENSP00000503356.1:p.His526= | |
| ENST00000341012.11:c.1767C= | ENSP00000343034.7:p.His589= | |
| ENST00000372220.4:c.792C= | ENSP00000361294.4:p.His264= | |
| ENST00000372228.7:c.1995C= | ENSP00000361302.3:p.His665= | |
| ENST00000402686.7:c.1929C= | ENSP00000385797.3:p.His643= | |
| ENST00000404875.6:c.1578C= | ENSP00000384531.2:p.His526= | |
| ENST00000423007.5:c.1929C= | ENSP00000404119.1:p.His643= | |
| ENST00000485278.5:n.2479C= | ||
| ENST00000494883.1:n.472C= | ||
| NM_001077365.1:c.1929C= | NP_001070833.1:p.His643= | |
| NM_001077366.1:c.1767C= | NP_001070834.1:p.His589= | |
| NM_001136113.1:c.1929C= | NP_001129585.1:p.His643= | |
| NM_001136114.1:c.1578C= | NP_001129586.1:p.His526= | |
| NM_007171.3:c.1995C= | NP_009102.3:p.His665= | |
| XM_005272156.1:c.1995C= | XP_005272213.1:p.His665= | |
| XM_005272158.1:c.1833C= | XP_005272215.1:p.His611= | |
| XM_005272159.1:c.1644C= | XP_005272216.1:p.His548= | |
| XM_005272162.1:c.798C= | XP_005272219.1:p.His266= | |
| XM_006716932.1:c.1644C= | XP_006716995.1:p.His548= | |
| XM_011518140.1:c.1848C= | XP_011516442.1:p.His616= | |
| XM_011518141.1:c.1782C= | XP_011516443.1:p.His594= | |
| XM_011518142.1:c.1686C= | XP_011516444.1:p.His562= | |
| XM_011518143.1:c.1680C= | XP_011516445.1:p.His560= | |
| XM_011518145.1:c.1539C= | XP_011516447.1:p.His513= | |
| XM_011518147.1:c.867C= | XP_011516449.1:p.His289= | |
| XR_929703.1:n.2171C= | ||
| NM_001353193.1:c.1995C= | NP_001340122.1:p.His665= | |
| NM_001353194.1:c.1767C= | NP_001340123.1:p.His589= | |
| NM_001353195.1:c.1578C= | NP_001340124.1:p.His526= | |
| NM_001353196.1:c.1839C= | NP_001340125.1:p.His613= | |
| NM_001353197.1:c.1833C= | NP_001340126.1:p.His611= | |
| NM_001353198.1:c.1833C= | NP_001340127.1:p.His611= | |
| NM_001353199.1:c.1644C= | NP_001340128.1:p.His548= | |
| NM_001353200.1:c.1473C= | NP_001340129.1:p.His491= | |
| NR_148391.1:n.1979C= | ||
| NR_148392.1:n.2197C= | ||
| NR_148393.1:n.2118C= | ||
| NR_148394.1:n.1872C= | ||
| NR_148395.1:n.2270C= | ||
| NR_148396.1:n.1904C= | ||
| NR_148397.1:n.2029C= | ||
| NR_148398.1:n.1984C= | ||
| NR_148399.1:n.2510C= | ||
| NR_148400.1:n.2109C= | ||
| XM_005272162.3:c.798C= | XP_005272219.1:p.His266= | |
| XM_006716932.2:c.1644C= | XP_006716995.1:p.His548= | |
| XM_011518140.2:c.1848C= | XP_011516442.1:p.His616= | |
| XM_011518141.2:c.1782C= | XP_011516443.1:p.His594= | |
| XM_011518142.2:c.1686C= | XP_011516444.1:p.His562= | |
| XM_011518143.2:c.1680C= | XP_011516445.1:p.His560= | |
| XM_011518145.2:c.1539C= | XP_011516447.1:p.His513= | |
| XM_017014205.2:c.798C= | XP_016869694.1:p.His266= | |
| XM_024447380.1:c.798C= | XP_024303148.1:p.His266= | |
| XM_024447381.1:c.1104C= | XP_024303149.1:p.His368= | |
| XM_024447382.1:c.798C= | XP_024303150.1:p.His266= | |
| XR_001746160.2:n.2099C= | ||
| XR_001746162.2:n.2304C= | ||
| XR_001746164.1:n.2021C= | ||
| XR_001746166.2:n.2316C= | ||
| NM_001077365.2:c.1929C= MANE Select | NP_001070833.1:p.His643= | |
| NM_001077366.2:c.1767C= | NP_001070834.1:p.His589= | |
| NM_001136113.2:c.1929C= | NP_001129585.1:p.His643= | |
| NM_001136114.2:c.1578C= | NP_001129586.1:p.His526= | |
| NM_001353193.2:c.1995C= | NP_001340122.2:p.His665= | |
| NM_001353194.2:c.1767C= | NP_001340123.1:p.His589= | |
| NM_001353195.2:c.1578C= | NP_001340124.1:p.His526= | |
| NM_001353196.2:c.1839C= | NP_001340125.1:p.His613= | |
| NM_001353197.2:c.1833C= | NP_001340126.2:p.His611= | |
| NM_001353198.2:c.1833C= | NP_001340127.2:p.His611= | |
| NM_001353199.2:c.1644C= | NP_001340128.2:p.His548= | |
| NM_001353200.2:c.1473C= | NP_001340129.1:p.His491= | |
| NM_001374689.1:c.1917C= | NP_001361618.1:p.His639= | |
| NM_001374690.1:c.1710C= | NP_001361619.1:p.His570= | |
| NM_001374691.1:c.1578C= | NP_001361620.1:p.His526= | |
| NM_001374692.1:c.1578C= | NP_001361621.1:p.His526= | |
| NM_001374693.1:c.1578C= | NP_001361622.1:p.His526= | |
| NM_001374695.1:c.1539C= | NP_001361624.1:p.His513= | |
| NM_007171.4:c.1995C= | NP_009102.4:p.His665= | |
| NR_148391.2:n.1963C= | ||
| NR_148392.2:n.2181C= | ||
| NR_148393.2:n.2102C= | ||
| NR_148394.2:n.1856C= | ||
| NR_148395.2:n.2254C= | ||
| NR_148396.2:n.1888C= | ||
| NR_148397.2:n.2013C= | ||
| NR_148398.2:n.1968C= | ||
| NR_148399.2:n.2494C= | ||
| NR_148400.2:n.2093C= |