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.131523007G= , CM000671.2:g.131523007G= | GRCh38 |
| NC_000009.11:g.134398394G= , CM000671.1:g.134398394G= | GRCh37 |
| NC_000009.10:g.133388215G= | NCBI36 |
| NG_008896.1:g.25106G= | |
| NG_008896.2:g.25106G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1917G= | ENSP00000343034.7:p.Thr639= | |
| ENST00000404875.7:n.2619G= | ||
| ENST00000423007.6:c.2136G= | ENSP00000404119.2:p.Thr712= | |
| ENST00000677295.2:c.*2423G= | ENSP00000504346.2:n.*2423G= | |
| ENST00000678264.2:c.*2262G= | ENSP00000503157.2:n.*2262G= | |
| ENST00000682070.1:n.2389G= | ||
| ENST00000682639.1:c.76G= | ||
| ENST00000682813.1:n.2476G= | ||
| ENST00000683231.1:c.76G= | ||
| ENST00000683392.1:n.4671G= | ||
| ENST00000683712.1:n.2484G= | ||
| ENST00000683900.1:n.3979G= | ||
| ENST00000684062.1:n.2745G= | ||
| ENST00000684399.1:c.76G= | ||
| ENST00000684579.1:n.3925G= | ||
| ENST00000341012.12:c.1917G= | ENSP00000343034.7:p.Thr639= | |
| ENST00000372220.5:c.948G= | ENSP00000361294.5:p.Thr316= | |
| ENST00000372228.9:c.2145G= | ENSP00000361302.3:p.Thr715= | |
| ENST00000402686.8:c.2079G= MANE Select | ENSP00000385797.4:p.Thr693= | |
| ENST00000676640.1:c.2079G= | ENSP00000503281.1:p.Thr693= | |
| ENST00000676803.1:c.1140G= | ENSP00000503093.1:p.Thr380= | |
| ENST00000676835.1:c.*1294G= | ENSP00000502911.1:n.*1294G= | |
| ENST00000677029.1:c.1623G= | ENSP00000502936.1:p.Thr541= | |
| ENST00000677099.1:c.*1789G= | ENSP00000504553.1:n.*1789G= | |
| ENST00000677216.1:c.1728G= | ENSP00000503772.1:p.Thr576= | |
| ENST00000677221.1:n.1104G= | ||
| ENST00000677295.1:c.*1301G= | ENSP00000504346.1:n.*1301G= | |
| ENST00000677444.1:c.2024G= | ||
| ENST00000677586.1:n.1446G= | ||
| ENST00000677626.1:c.1728G= | ENSP00000503552.1:p.Thr576= | |
| ENST00000677853.1:c.*1087G= | ENSP00000503488.1:n.*1087G= | |
| ENST00000678264.1:c.*1456G= | ENSP00000503157.1:n.*1456G= | |
| ENST00000678303.1:c.1989G= | ENSP00000503696.1:p.Thr663= | |
| ENST00000678366.1:c.*2328G= | ENSP00000504353.1:n.*2328G= | |
| ENST00000678546.1:c.*2024G= | ENSP00000503062.1:n.*2024G= | |
| ENST00000678548.1:c.*2218G= | ENSP00000503934.1:n.*2218G= | |
| ENST00000678626.1:n.1915G= | ||
| ENST00000678739.1:c.*2245G= | ENSP00000503806.1:n.*2245G= | |
| ENST00000678833.1:c.*1831G= | ENSP00000503893.1:n.*1831G= | |
| ENST00000679023.1:c.1917G= | ENSP00000503718.1:p.Thr639= | |
| ENST00000679076.1:c.1698G= | ||
| ENST00000679111.1:c.*835G= | ENSP00000504257.1:n.*835G= | |
| ENST00000679189.1:c.1728G= | ENSP00000503356.1:p.Thr576= | |
| ENST00000341012.11:c.1917G= | ENSP00000343034.7:p.Thr639= | |
| ENST00000372220.4:c.942G= | ENSP00000361294.4:p.Thr314= | |
| ENST00000372228.7:c.2145G= | ENSP00000361302.3:p.Thr715= | |
| ENST00000402686.7:c.2079G= | ENSP00000385797.3:p.Thr693= | |
| ENST00000404875.6:c.1728G= | ENSP00000384531.2:p.Thr576= | |
| ENST00000423007.5:c.2079G= | ENSP00000404119.1:p.Thr693= | |
| ENST00000485278.5:n.2629G= | ||
| NM_001077365.1:c.2079G= | NP_001070833.1:p.Thr693= | |
| NM_001077366.1:c.1917G= | NP_001070834.1:p.Thr639= | |
| NM_001136113.1:c.2079G= | NP_001129585.1:p.Thr693= | |
| NM_001136114.1:c.1728G= | NP_001129586.1:p.Thr576= | |
| NM_007171.3:c.2145G= | NP_009102.3:p.Thr715= | |
| XM_005272156.1:c.2145G= | XP_005272213.1:p.Thr715= | |
| XM_005272158.1:c.1983G= | XP_005272215.1:p.Thr661= | |
| XM_005272159.1:c.1794G= | XP_005272216.1:p.Thr598= | |
| XM_005272162.1:c.948G= | XP_005272219.1:p.Thr316= | |
| XM_006716932.1:c.1794G= | XP_006716995.1:p.Thr598= | |
| XM_011518140.1:c.1998G= | XP_011516442.1:p.Thr666= | |
| XM_011518141.1:c.1932G= | XP_011516443.1:p.Thr644= | |
| XM_011518142.1:c.1836G= | XP_011516444.1:p.Thr612= | |
| XM_011518143.1:c.1830G= | XP_011516445.1:p.Thr610= | |
| XM_011518145.1:c.1689G= | XP_011516447.1:p.Thr563= | |
| XM_011518147.1:c.1017G= | XP_011516449.1:p.Thr339= | |
| XR_929703.1:n.2321G= | ||
| NM_001353193.1:c.2145G= | NP_001340122.1:p.Thr715= | |
| NM_001353194.1:c.1917G= | NP_001340123.1:p.Thr639= | |
| NM_001353195.1:c.1728G= | NP_001340124.1:p.Thr576= | |
| NM_001353196.1:c.1989G= | NP_001340125.1:p.Thr663= | |
| NM_001353197.1:c.1983G= | NP_001340126.1:p.Thr661= | |
| NM_001353198.1:c.1983G= | NP_001340127.1:p.Thr661= | |
| NM_001353199.1:c.1794G= | NP_001340128.1:p.Thr598= | |
| NM_001353200.1:c.1623G= | NP_001340129.1:p.Thr541= | |
| NR_148391.1:n.2129G= | ||
| NR_148392.1:n.2347G= | ||
| NR_148393.1:n.2268G= | ||
| NR_148394.1:n.2022G= | ||
| NR_148395.1:n.2420G= | ||
| NR_148396.1:n.2054G= | ||
| NR_148397.1:n.2179G= | ||
| NR_148398.1:n.2134G= | ||
| NR_148399.1:n.2660G= | ||
| NR_148400.1:n.2259G= | ||
| XM_005272162.3:c.948G= | XP_005272219.1:p.Thr316= | |
| XM_006716932.2:c.1794G= | XP_006716995.1:p.Thr598= | |
| XM_011518140.2:c.1998G= | XP_011516442.1:p.Thr666= | |
| XM_011518141.2:c.1932G= | XP_011516443.1:p.Thr644= | |
| XM_011518142.2:c.1836G= | XP_011516444.1:p.Thr612= | |
| XM_011518143.2:c.1830G= | XP_011516445.1:p.Thr610= | |
| XM_011518145.2:c.1689G= | XP_011516447.1:p.Thr563= | |
| XM_017014205.2:c.948G= | XP_016869694.1:p.Thr316= | |
| XM_024447380.1:c.948G= | XP_024303148.1:p.Thr316= | |
| XM_024447381.1:c.1254G= | XP_024303149.1:p.Thr418= | |
| XM_024447382.1:c.948G= | XP_024303150.1:p.Thr316= | |
| XR_001746160.2:n.2249G= | ||
| XR_001746162.2:n.2454G= | ||
| XR_001746164.1:n.2171G= | ||
| XR_001746166.2:n.2466G= | ||
| NM_001077365.2:c.2079G= MANE Select | NP_001070833.1:p.Thr693= | |
| NM_001077366.2:c.1917G= | NP_001070834.1:p.Thr639= | |
| NM_001136113.2:c.2079G= | NP_001129585.1:p.Thr693= | |
| NM_001136114.2:c.1728G= | NP_001129586.1:p.Thr576= | |
| NM_001353193.2:c.2145G= | NP_001340122.2:p.Thr715= | |
| NM_001353194.2:c.1917G= | NP_001340123.1:p.Thr639= | |
| NM_001353195.2:c.1728G= | NP_001340124.1:p.Thr576= | |
| NM_001353196.2:c.1989G= | NP_001340125.1:p.Thr663= | |
| NM_001353197.2:c.1983G= | NP_001340126.2:p.Thr661= | |
| NM_001353198.2:c.1983G= | NP_001340127.2:p.Thr661= | |
| NM_001353199.2:c.1794G= | NP_001340128.2:p.Thr598= | |
| NM_001353200.2:c.1623G= | NP_001340129.1:p.Thr541= | |
| NM_001374689.1:c.2067G= | NP_001361618.1:p.Thr689= | |
| NM_001374690.1:c.1860G= | NP_001361619.1:p.Thr620= | |
| NM_001374691.1:c.1728G= | NP_001361620.1:p.Thr576= | |
| NM_001374692.1:c.1728G= | NP_001361621.1:p.Thr576= | |
| NM_001374693.1:c.1728G= | NP_001361622.1:p.Thr576= | |
| NM_001374695.1:c.1689G= | NP_001361624.1:p.Thr563= | |
| NM_007171.4:c.2145G= | NP_009102.4:p.Thr715= | |
| NR_148391.2:n.2113G= | ||
| NR_148392.2:n.2331G= | ||
| NR_148393.2:n.2252G= | ||
| NR_148394.2:n.2006G= | ||
| NR_148395.2:n.2404G= | ||
| NR_148396.2:n.2038G= | ||
| NR_148397.2:n.2163G= | ||
| NR_148398.2:n.2118G= | ||
| NR_148399.2:n.2644G= | ||
| NR_148400.2:n.2243G= |