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_000002.12:g.237763787G= , CM000664.2:g.237763787G= | GRCh38 |
| NC_000002.11:g.238672430G= , CM000664.1:g.238672430G= | GRCh37 |
| NC_000002.10:g.238337169G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3582G= | ||
| ENST00000698098.1:c.955+3582G= | ENSP00000513562.1:n.955+3582G= | |
| ENST00000308482.14:c.1459+3582G= MANE Select | ENSP00000310109.9:n.1459+3582G= | |
| ENST00000244815.9:c.2002G= | ENSP00000244815.5:p.Gly668= | |
| ENST00000289175.10:c.1906G= | ENSP00000289175.6:p.Gly636= | |
| ENST00000308482.13:c.1459+3582G= | ENSP00000310109.9:n.1459+3582G= | |
| ENST00000392000.4:c.2074G= | ENSP00000375857.4:p.Gly692= | |
| ENST00000483443.1:n.235+3582G= | ||
| NM_001137550.1:c.1459+3582G= | NP_001131022.1:n.1459+3582G= | |
| NM_001137551.1:c.721+3582G= | NP_001131023.1:n.721+3582G= | |
| NM_001137552.1:c.2074G= | NP_001131024.1:p.Gly692= | |
| NM_001137553.1:c.1906G= | NP_001131025.1:p.Gly636= | |
| NM_004735.3:c.2002G= | NP_004726.2:p.Gly668= | |
| XM_005246112.3:c.2707G= | XP_005246169.1:p.Gly903= | |
| XM_005246115.3:c.2662G= | XP_005246172.1:p.Gly888= | |
| XM_005246116.3:c.2644G= | XP_005246173.1:p.Gly882= | |
| XM_005246118.3:c.2599G= | XP_005246175.1:p.Gly867= | |
| XM_005246119.3:c.2596G= | XP_005246176.1:p.Gly866= | |
| XM_005246120.3:c.2560G= | XP_005246177.1:p.Gly854= | |
| XM_005246121.3:c.2545G= | XP_005246178.1:p.Gly849= | |
| XM_005246122.3:c.2533G= | XP_005246179.1:p.Gly845= | |
| XM_005246124.1:c.2515G= | XP_005246181.1:p.Gly839= | |
| XM_005246125.3:c.2494G= | XP_005246182.1:p.Gly832= | |
| XM_005246126.3:c.2455G= | XP_005246183.1:p.Gly819= | |
| XM_005246128.1:c.2422G= | XP_005246185.1:p.Gly808= | |
| XM_005246129.3:c.2383G= | XP_005246186.1:p.Gly795= | |
| XM_005246130.3:c.2356G= | XP_005246187.1:p.Gly786= | |
| XM_005246131.3:c.2269G= | XP_005246188.1:p.Gly757= | |
| XM_005246132.3:c.2194G= | XP_005246189.1:p.Gly732= | |
| XM_005246133.1:c.2164G= | XP_005246190.1:p.Gly722= | |
| XM_005246134.1:c.2122G= | XP_005246191.1:p.Gly708= | |
| XM_005246135.1:c.2092G= | XP_005246192.1:p.Gly698= | |
| XM_005246136.1:c.1936G= | XP_005246193.1:p.Gly646= | |
| XM_005246141.3:c.823+3582G= | XP_005246198.1:n.823+3582G= | |
| XM_005246142.1:c.751+3582G= | XP_005246199.1:n.751+3582G= | |
| XM_006712842.2:c.2605G= | XP_006712905.1:p.Gly869= | |
| XM_006712843.2:c.2500G= | XP_006712906.1:p.Gly834= | |
| XM_006712844.1:c.2434G= | XP_006712907.1:p.Gly812= | |
| XM_006712845.2:c.2416G= | XP_006712908.1:p.Gly806= | |
| XM_006712846.1:c.2320G= | XP_006712909.1:p.Gly774= | |
| XM_006712847.1:c.2260G= | XP_006712910.1:p.Gly754= | |
| XM_006712848.1:c.2188G= | XP_006712911.1:p.Gly730= | |
| XM_011512152.1:c.2740G= | XP_011510454.1:p.Gly914= | |
| XM_011512153.1:c.2722G= | XP_011510455.1:p.Gly908= | |
| XM_011512154.1:c.2710G= | XP_011510456.1:p.Gly904= | |
| XM_011512155.1:c.2701G= | XP_011510457.1:p.Gly901= | |
| XM_011512156.1:c.2668G= | XP_011510458.1:p.Gly890= | |
| XM_011512157.1:c.2554G= | XP_011510459.1:p.Gly852= | |
| XM_011512158.1:c.2482G= | XP_011510460.1:p.Gly828= | |
| XM_011512159.1:c.2290G= | XP_011510461.1:p.Gly764= | |
| XM_011512160.1:c.1555+3582G= | XP_011510462.1:n.1555+3582G= | |
| XM_011512161.1:c.1555+3582G= | XP_011510463.1:n.1555+3582G= | |
| XM_011512162.1:c.1369+3582G= | XP_011510464.1:n.1369+3582G= | |
| XM_011512163.1:c.1297+3582G= | XP_011510465.1:n.1297+3582G= | |
| XM_011512164.1:c.751+3582G= | XP_011510466.1:n.751+3582G= | |
| XM_011512165.1:c.721+3582G= | XP_011510467.1:n.721+3582G= | |
| XM_011512166.1:c.1516+3582G= | XP_011510468.1:n.1516+3582G= | |
| XR_923063.1:n.1605+3582G= | ||
| XM_005246141.4:c.823+3582G= | XP_005246198.1:n.823+3582G= | |
| XM_005246142.2:c.751+3582G= | XP_005246199.1:n.751+3582G= | |
| XM_017005253.2:c.1522+3582G= | XP_016860742.1:n.1522+3582G= | |
| XM_017005254.2:c.1522+3582G= | XP_016860743.1:n.1522+3582G= | |
| XM_017005255.2:c.1450+3582G= | XP_016860744.1:n.1450+3582G= | |
| XM_017005256.2:c.1336+3582G= | XP_016860745.1:n.1336+3582G= | |
| XM_017005257.2:c.1387+3582G= | XP_016860746.1:n.1387+3582G= | |
| XM_017005258.2:c.1336+3582G= | XP_016860747.1:n.1336+3582G= | |
| XM_017005260.2:c.1162+3582G= | XP_016860749.1:n.1162+3582G= | |
| XM_017005261.2:c.1099+3582G= | XP_016860750.1:n.1099+3582G= | |
| XM_017005262.2:c.1099+3582G= | XP_016860751.1:n.1099+3582G= | |
| XM_017005263.2:c.937+3582G= | XP_016860752.1:n.937+3582G= | |
| XR_001739039.2:n.2776G= | ||
| XR_001739040.1:n.2941G= | ||
| XR_001739041.2:n.2737G= | ||
| XR_001739042.2:n.2713G= | ||
| XR_001739043.1:n.2689G= | ||
| XR_001739044.2:n.2704G= | ||
| XR_001739045.2:n.2674G= | ||
| XR_001739046.1:n.3021G= | ||
| XR_001739047.2:n.2590G= | ||
| XR_001739048.1:n.2779G= | ||
| XR_001739049.2:n.2524G= | ||
| XR_001739050.2:n.2485G= | ||
| XR_001739051.2:n.2452G= | ||
| XR_001739052.2:n.2425G= | ||
| XR_001739053.1:n.2414G= | ||
| XR_001739054.1:n.2336G= | ||
| XR_001739055.2:n.2353G= | ||
| XR_001739056.2:n.2338G= | ||
| XR_001739057.1:n.2354G= | ||
| XR_001739058.1:n.2533G= | ||
| XR_001739059.2:n.2266G= | ||
| XR_001739060.1:n.2240G= | ||
| XR_001739061.1:n.2282G= | ||
| XR_001739062.1:n.2459G= | ||
| XR_001739063.1:n.2166G= | ||
| XR_001739064.1:n.2427G= | ||
| XR_001739065.1:n.2371G= | ||
| XR_001739066.1:n.2168G= | ||
| XR_001739067.1:n.2075G= | ||
| XR_001739068.1:n.2096G= | ||
| XR_001739069.1:n.2273G= | ||
| XR_001739070.1:n.2137G= | ||
| XR_001739071.1:n.1995G= | ||
| XR_001739072.1:n.2241G= | ||
| XR_001739073.2:n.1591+3582G= | ||
| XR_002959364.1:n.2167G= | ||
| NM_001137550.2:c.1459+3582G= MANE Select | NP_001131022.1:n.1459+3582G= | |
| NM_001137552.2:c.2074G= | NP_001131024.1:p.Gly692= | |
| NM_001137553.2:c.1906G= | NP_001131025.1:p.Gly636= | |
| NM_004735.4:c.2002G= | NP_004726.2:p.Gly668= | |
| NM_001137551.2:c.721+3582G= | NP_001131023.1:n.721+3582G= |