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.131522184C= , CM000671.2:g.131522184C= | GRCh38 |
| NC_000009.11:g.134397571C= , CM000671.1:g.134397571C= | GRCh37 |
| NC_000009.10:g.133387392C= | NCBI36 |
| NG_008896.1:g.24283C= | |
| NG_008896.2:g.24283C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1801C= | ENSP00000343034.7:p.Leu601= | |
| ENST00000404875.7:n.2503C= | ||
| ENST00000423007.6:c.2020C= | ENSP00000404119.2:p.Leu674= | |
| ENST00000677295.2:c.*2307C= | ENSP00000504346.2:n.*2307C= | |
| ENST00000678264.2:c.*2146C= | ENSP00000503157.2:n.*2146C= | |
| ENST00000682070.1:n.2291-18C= | ||
| ENST00000682813.1:n.2367C= | ||
| ENST00000683392.1:n.4573-18C= | ||
| ENST00000683712.1:n.2368C= | ||
| ENST00000683900.1:n.3863C= | ||
| ENST00000684062.1:n.2629C= | ||
| ENST00000684579.1:n.3809C= | ||
| ENST00000684679.1:n.1190C= | ||
| ENST00000341012.12:c.1801C= | ENSP00000343034.7:p.Leu601= | |
| ENST00000372220.5:c.832C= | ENSP00000361294.5:p.Leu278= | |
| ENST00000372228.9:c.2029C= | ENSP00000361302.3:p.Leu677= | |
| ENST00000402686.8:c.1963C= MANE Select | ENSP00000385797.4:p.Leu655= | |
| ENST00000676640.1:c.1963C= | ENSP00000503281.1:p.Leu655= | |
| ENST00000676803.1:c.1024C= | ENSP00000503093.1:p.Leu342= | |
| ENST00000676835.1:c.*1178C= | ENSP00000502911.1:n.*1178C= | |
| ENST00000677029.1:c.1507C= | ENSP00000502936.1:p.Leu503= | |
| ENST00000677099.1:c.*1673C= | ENSP00000504553.1:n.*1673C= | |
| ENST00000677216.1:c.1612C= | ENSP00000503772.1:p.Leu538= | |
| ENST00000677221.1:n.988C= | ||
| ENST00000677295.1:c.*1203-18C= | ENSP00000504346.1:n.*1203-18C= | |
| ENST00000677444.1:c.1908C= | ||
| ENST00000677586.1:n.1330C= | ||
| ENST00000677626.1:c.1612C= | ENSP00000503552.1:p.Leu538= | |
| ENST00000677853.1:c.*971C= | ENSP00000503488.1:n.*971C= | |
| ENST00000678202.1:n.1122C= | ||
| ENST00000678264.1:c.*1340C= | ENSP00000503157.1:n.*1340C= | |
| ENST00000678303.1:c.1873C= | ENSP00000503696.1:p.Leu625= | |
| ENST00000678366.1:c.*2212C= | ENSP00000504353.1:n.*2212C= | |
| ENST00000678546.1:c.*1908C= | ENSP00000503062.1:n.*1908C= | |
| ENST00000678548.1:c.*2102C= | ENSP00000503934.1:n.*2102C= | |
| ENST00000678626.1:n.1799C= | ||
| ENST00000678739.1:c.*2147-18C= | ENSP00000503806.1:n.*2147-18C= | |
| ENST00000678833.1:c.*1715C= | ENSP00000503893.1:n.*1715C= | |
| ENST00000679023.1:c.1801C= | ENSP00000503718.1:p.Leu601= | |
| ENST00000679076.1:c.1582C= | ||
| ENST00000679111.1:c.*719C= | ENSP00000504257.1:n.*719C= | |
| ENST00000679189.1:c.1612C= | ENSP00000503356.1:p.Leu538= | |
| ENST00000341012.11:c.1801C= | ENSP00000343034.7:p.Leu601= | |
| ENST00000372220.4:c.826C= | ENSP00000361294.4:p.Leu276= | |
| ENST00000372228.7:c.2029C= | ENSP00000361302.3:p.Leu677= | |
| ENST00000402686.7:c.1963C= | ENSP00000385797.3:p.Leu655= | |
| ENST00000404875.6:c.1612C= | ENSP00000384531.2:p.Leu538= | |
| ENST00000423007.5:c.1963C= | ENSP00000404119.1:p.Leu655= | |
| ENST00000485278.5:n.2513C= | ||
| ENST00000494883.1:n.506C= | ||
| NM_001077365.1:c.1963C= | NP_001070833.1:p.Leu655= | |
| NM_001077366.1:c.1801C= | NP_001070834.1:p.Leu601= | |
| NM_001136113.1:c.1963C= | NP_001129585.1:p.Leu655= | |
| NM_001136114.1:c.1612C= | NP_001129586.1:p.Leu538= | |
| NM_007171.3:c.2029C= | NP_009102.3:p.Leu677= | |
| XM_005272156.1:c.2029C= | XP_005272213.1:p.Leu677= | |
| XM_005272158.1:c.1867C= | XP_005272215.1:p.Leu623= | |
| XM_005272159.1:c.1678C= | XP_005272216.1:p.Leu560= | |
| XM_005272162.1:c.832C= | XP_005272219.1:p.Leu278= | |
| XM_006716932.1:c.1678C= | XP_006716995.1:p.Leu560= | |
| XM_011518140.1:c.1882C= | XP_011516442.1:p.Leu628= | |
| XM_011518141.1:c.1816C= | XP_011516443.1:p.Leu606= | |
| XM_011518142.1:c.1720C= | XP_011516444.1:p.Leu574= | |
| XM_011518143.1:c.1714C= | XP_011516445.1:p.Leu572= | |
| XM_011518145.1:c.1573C= | XP_011516447.1:p.Leu525= | |
| XM_011518147.1:c.901C= | XP_011516449.1:p.Leu301= | |
| XR_929703.1:n.2205C= | ||
| NM_001353193.1:c.2029C= | NP_001340122.1:p.Leu677= | |
| NM_001353194.1:c.1801C= | NP_001340123.1:p.Leu601= | |
| NM_001353195.1:c.1612C= | NP_001340124.1:p.Leu538= | |
| NM_001353196.1:c.1873C= | NP_001340125.1:p.Leu625= | |
| NM_001353197.1:c.1867C= | NP_001340126.1:p.Leu623= | |
| NM_001353198.1:c.1867C= | NP_001340127.1:p.Leu623= | |
| NM_001353199.1:c.1678C= | NP_001340128.1:p.Leu560= | |
| NM_001353200.1:c.1507C= | NP_001340129.1:p.Leu503= | |
| NR_148391.1:n.2013C= | ||
| NR_148392.1:n.2231C= | ||
| NR_148393.1:n.2152C= | ||
| NR_148394.1:n.1906C= | ||
| NR_148395.1:n.2304C= | ||
| NR_148396.1:n.1938C= | ||
| NR_148397.1:n.2063C= | ||
| NR_148398.1:n.2018C= | ||
| NR_148399.1:n.2544C= | ||
| NR_148400.1:n.2143C= | ||
| XM_005272162.3:c.832C= | XP_005272219.1:p.Leu278= | |
| XM_006716932.2:c.1678C= | XP_006716995.1:p.Leu560= | |
| XM_011518140.2:c.1882C= | XP_011516442.1:p.Leu628= | |
| XM_011518141.2:c.1816C= | XP_011516443.1:p.Leu606= | |
| XM_011518142.2:c.1720C= | XP_011516444.1:p.Leu574= | |
| XM_011518143.2:c.1714C= | XP_011516445.1:p.Leu572= | |
| XM_011518145.2:c.1573C= | XP_011516447.1:p.Leu525= | |
| XM_017014205.2:c.832C= | XP_016869694.1:p.Leu278= | |
| XM_024447380.1:c.832C= | XP_024303148.1:p.Leu278= | |
| XM_024447381.1:c.1138C= | XP_024303149.1:p.Leu380= | |
| XM_024447382.1:c.832C= | XP_024303150.1:p.Leu278= | |
| XR_001746160.2:n.2133C= | ||
| XR_001746162.2:n.2338C= | ||
| XR_001746164.1:n.2055C= | ||
| XR_001746166.2:n.2350C= | ||
| NM_001077365.2:c.1963C= MANE Select | NP_001070833.1:p.Leu655= | |
| NM_001077366.2:c.1801C= | NP_001070834.1:p.Leu601= | |
| NM_001136113.2:c.1963C= | NP_001129585.1:p.Leu655= | |
| NM_001136114.2:c.1612C= | NP_001129586.1:p.Leu538= | |
| NM_001353193.2:c.2029C= | NP_001340122.2:p.Leu677= | |
| NM_001353194.2:c.1801C= | NP_001340123.1:p.Leu601= | |
| NM_001353195.2:c.1612C= | NP_001340124.1:p.Leu538= | |
| NM_001353196.2:c.1873C= | NP_001340125.1:p.Leu625= | |
| NM_001353197.2:c.1867C= | NP_001340126.2:p.Leu623= | |
| NM_001353198.2:c.1867C= | NP_001340127.2:p.Leu623= | |
| NM_001353199.2:c.1678C= | NP_001340128.2:p.Leu560= | |
| NM_001353200.2:c.1507C= | NP_001340129.1:p.Leu503= | |
| NM_001374689.1:c.1951C= | NP_001361618.1:p.Leu651= | |
| NM_001374690.1:c.1744C= | NP_001361619.1:p.Leu582= | |
| NM_001374691.1:c.1612C= | NP_001361620.1:p.Leu538= | |
| NM_001374692.1:c.1612C= | NP_001361621.1:p.Leu538= | |
| NM_001374693.1:c.1612C= | NP_001361622.1:p.Leu538= | |
| NM_001374695.1:c.1573C= | NP_001361624.1:p.Leu525= | |
| NM_007171.4:c.2029C= | NP_009102.4:p.Leu677= | |
| NR_148391.2:n.1997C= | ||
| NR_148392.2:n.2215C= | ||
| NR_148393.2:n.2136C= | ||
| NR_148394.2:n.1890C= | ||
| NR_148395.2:n.2288C= | ||
| NR_148396.2:n.1922C= | ||
| NR_148397.2:n.2047C= | ||
| NR_148398.2:n.2002C= | ||
| NR_148399.2:n.2528C= | ||
| NR_148400.2:n.2127C= |