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.131523083G= , CM000671.2:g.131523083G= | GRCh38 |
| NC_000009.11:g.134398470G= , CM000671.1:g.134398470G= | GRCh37 |
| NC_000009.10:g.133388291G= | NCBI36 |
| NG_008896.1:g.25182G= | |
| NG_008896.2:g.25182G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1993G= | ENSP00000343034.7:p.Asp665= | |
| ENST00000404875.7:n.2695G= | ||
| ENST00000423007.6:c.2212G= | ENSP00000404119.2:p.Asp738= | |
| ENST00000677295.2:c.*2499G= | ENSP00000504346.2:n.*2499G= | |
| ENST00000678264.2:c.*2338G= | ENSP00000503157.2:n.*2338G= | |
| ENST00000682070.1:n.2465G= | ||
| ENST00000682639.1:c.152G= | ||
| ENST00000682813.1:n.2552G= | ||
| ENST00000683231.1:c.152G= | ||
| ENST00000683392.1:n.4747G= | ||
| ENST00000683712.1:n.2560G= | ||
| ENST00000683900.1:n.4055G= | ||
| ENST00000684062.1:n.2821G= | ||
| ENST00000684399.1:c.152G= | ||
| ENST00000684579.1:n.4001G= | ||
| ENST00000341012.12:c.1993G= | ENSP00000343034.7:p.Asp665= | |
| ENST00000372220.5:c.1024G= | ENSP00000361294.5:p.Asp342= | |
| ENST00000372228.9:c.2221G= | ENSP00000361302.3:p.Asp741= | |
| ENST00000402686.8:c.2155G= MANE Select | ENSP00000385797.4:p.Asp719= | |
| ENST00000676640.1:c.2155G= | ENSP00000503281.1:p.Asp719= | |
| ENST00000676803.1:c.1216G= | ENSP00000503093.1:p.Asp406= | |
| ENST00000676835.1:c.*1370G= | ENSP00000502911.1:n.*1370G= | |
| ENST00000677029.1:c.1699G= | ENSP00000502936.1:p.Asp567= | |
| ENST00000677099.1:c.*1865G= | ENSP00000504553.1:n.*1865G= | |
| ENST00000677216.1:c.1804G= | ENSP00000503772.1:p.Asp602= | |
| ENST00000677295.1:c.*1377G= | ENSP00000504346.1:n.*1377G= | |
| ENST00000677444.1:c.2100G= | ||
| ENST00000677586.1:n.1522G= | ||
| ENST00000677626.1:c.1804G= | ENSP00000503552.1:p.Asp602= | |
| ENST00000677853.1:c.*1163G= | ENSP00000503488.1:n.*1163G= | |
| ENST00000678264.1:c.*1532G= | ENSP00000503157.1:n.*1532G= | |
| ENST00000678303.1:c.2065G= | ENSP00000503696.1:p.Asp689= | |
| ENST00000678366.1:c.*2404G= | ENSP00000504353.1:n.*2404G= | |
| ENST00000678546.1:c.*2100G= | ENSP00000503062.1:n.*2100G= | |
| ENST00000678548.1:c.*2294G= | ENSP00000503934.1:n.*2294G= | |
| ENST00000678626.1:n.1991G= | ||
| ENST00000678739.1:c.*2321G= | ENSP00000503806.1:n.*2321G= | |
| ENST00000678833.1:c.*1907G= | ENSP00000503893.1:n.*1907G= | |
| ENST00000679023.1:c.1993G= | ENSP00000503718.1:p.Asp665= | |
| ENST00000679076.1:c.1774G= | ||
| ENST00000679111.1:c.*911G= | ENSP00000504257.1:n.*911G= | |
| ENST00000679189.1:c.1804G= | ENSP00000503356.1:p.Asp602= | |
| ENST00000341012.11:c.1993G= | ENSP00000343034.7:p.Asp665= | |
| ENST00000372220.4:c.1018G= | ENSP00000361294.4:p.Asp340= | |
| ENST00000372228.7:c.2221G= | ENSP00000361302.3:p.Asp741= | |
| ENST00000402686.7:c.2155G= | ENSP00000385797.3:p.Asp719= | |
| ENST00000404875.6:c.1804G= | ENSP00000384531.2:p.Asp602= | |
| ENST00000423007.5:c.2155G= | ENSP00000404119.1:p.Asp719= | |
| ENST00000485278.5:n.2705G= | ||
| NM_001077365.1:c.2155G= | NP_001070833.1:p.Asp719= | |
| NM_001077366.1:c.1993G= | NP_001070834.1:p.Asp665= | |
| NM_001136113.1:c.2155G= | NP_001129585.1:p.Asp719= | |
| NM_001136114.1:c.1804G= | NP_001129586.1:p.Asp602= | |
| NM_007171.3:c.2221G= | NP_009102.3:p.Asp741= | |
| XM_005272156.1:c.2221G= | XP_005272213.1:p.Asp741= | |
| XM_005272158.1:c.2059G= | XP_005272215.1:p.Asp687= | |
| XM_005272159.1:c.1870G= | XP_005272216.1:p.Asp624= | |
| XM_005272162.1:c.1024G= | XP_005272219.1:p.Asp342= | |
| XM_006716932.1:c.1870G= | XP_006716995.1:p.Asp624= | |
| XM_011518140.1:c.2074G= | XP_011516442.1:p.Asp692= | |
| XM_011518141.1:c.2008G= | XP_011516443.1:p.Asp670= | |
| XM_011518142.1:c.1912G= | XP_011516444.1:p.Asp638= | |
| XM_011518143.1:c.1906G= | XP_011516445.1:p.Asp636= | |
| XM_011518145.1:c.1765G= | XP_011516447.1:p.Asp589= | |
| XM_011518147.1:c.1093G= | XP_011516449.1:p.Asp365= | |
| XR_929703.1:n.2397G= | ||
| NM_001353193.1:c.2221G= | NP_001340122.1:p.Asp741= | |
| NM_001353194.1:c.1993G= | NP_001340123.1:p.Asp665= | |
| NM_001353195.1:c.1804G= | NP_001340124.1:p.Asp602= | |
| NM_001353196.1:c.2065G= | NP_001340125.1:p.Asp689= | |
| NM_001353197.1:c.2059G= | NP_001340126.1:p.Asp687= | |
| NM_001353198.1:c.2059G= | NP_001340127.1:p.Asp687= | |
| NM_001353199.1:c.1870G= | NP_001340128.1:p.Asp624= | |
| NM_001353200.1:c.1699G= | NP_001340129.1:p.Asp567= | |
| NR_148391.1:n.2205G= | ||
| NR_148392.1:n.2423G= | ||
| NR_148393.1:n.2344G= | ||
| NR_148394.1:n.2098G= | ||
| NR_148395.1:n.2496G= | ||
| NR_148396.1:n.2130G= | ||
| NR_148397.1:n.2255G= | ||
| NR_148398.1:n.2210G= | ||
| NR_148399.1:n.2736G= | ||
| NR_148400.1:n.2335G= | ||
| XM_005272162.3:c.1024G= | XP_005272219.1:p.Asp342= | |
| XM_006716932.2:c.1870G= | XP_006716995.1:p.Asp624= | |
| XM_011518140.2:c.2074G= | XP_011516442.1:p.Asp692= | |
| XM_011518141.2:c.2008G= | XP_011516443.1:p.Asp670= | |
| XM_011518142.2:c.1912G= | XP_011516444.1:p.Asp638= | |
| XM_011518143.2:c.1906G= | XP_011516445.1:p.Asp636= | |
| XM_011518145.2:c.1765G= | XP_011516447.1:p.Asp589= | |
| XM_017014205.2:c.1024G= | XP_016869694.1:p.Asp342= | |
| XM_024447380.1:c.1024G= | XP_024303148.1:p.Asp342= | |
| XM_024447381.1:c.1330G= | XP_024303149.1:p.Asp444= | |
| XM_024447382.1:c.1024G= | XP_024303150.1:p.Asp342= | |
| XR_001746160.2:n.2325G= | ||
| XR_001746162.2:n.2530G= | ||
| XR_001746164.1:n.2247G= | ||
| XR_001746166.2:n.2542G= | ||
| NM_001077365.2:c.2155G= MANE Select | NP_001070833.1:p.Asp719= | |
| NM_001077366.2:c.1993G= | NP_001070834.1:p.Asp665= | |
| NM_001136113.2:c.2155G= | NP_001129585.1:p.Asp719= | |
| NM_001136114.2:c.1804G= | NP_001129586.1:p.Asp602= | |
| NM_001353193.2:c.2221G= | NP_001340122.2:p.Asp741= | |
| NM_001353194.2:c.1993G= | NP_001340123.1:p.Asp665= | |
| NM_001353195.2:c.1804G= | NP_001340124.1:p.Asp602= | |
| NM_001353196.2:c.2065G= | NP_001340125.1:p.Asp689= | |
| NM_001353197.2:c.2059G= | NP_001340126.2:p.Asp687= | |
| NM_001353198.2:c.2059G= | NP_001340127.2:p.Asp687= | |
| NM_001353199.2:c.1870G= | NP_001340128.2:p.Asp624= | |
| NM_001353200.2:c.1699G= | NP_001340129.1:p.Asp567= | |
| NM_001374689.1:c.2143G= | NP_001361618.1:p.Asp715= | |
| NM_001374690.1:c.1936G= | NP_001361619.1:p.Asp646= | |
| NM_001374691.1:c.1804G= | NP_001361620.1:p.Asp602= | |
| NM_001374692.1:c.1804G= | NP_001361621.1:p.Asp602= | |
| NM_001374693.1:c.1804G= | NP_001361622.1:p.Asp602= | |
| NM_001374695.1:c.1765G= | NP_001361624.1:p.Asp589= | |
| NM_007171.4:c.2221G= | NP_009102.4:p.Asp741= | |
| NR_148391.2:n.2189G= | ||
| NR_148392.2:n.2407G= | ||
| NR_148393.2:n.2328G= | ||
| NR_148394.2:n.2082G= | ||
| NR_148395.2:n.2480G= | ||
| NR_148396.2:n.2114G= | ||
| NR_148397.2:n.2239G= | ||
| NR_148398.2:n.2194G= | ||
| NR_148399.2:n.2720G= | ||
| NR_148400.2:n.2319G= |