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.237763827C= , CM000664.2:g.237763827C= | GRCh38 |
| NC_000002.11:g.238672470C= , CM000664.1:g.238672470C= | GRCh37 |
| NC_000002.10:g.238337209C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3622C= | ||
| ENST00000698098.1:c.955+3622C= | ENSP00000513562.1:n.955+3622C= | |
| ENST00000308482.14:c.1459+3622C= MANE Select | ENSP00000310109.9:n.1459+3622C= | |
| ENST00000244815.9:c.2042C= | ENSP00000244815.5:p.Ala681= | |
| ENST00000289175.10:c.1946C= | ENSP00000289175.6:p.Ala649= | |
| ENST00000308482.13:c.1459+3622C= | ENSP00000310109.9:n.1459+3622C= | |
| ENST00000392000.4:c.2114C= | ENSP00000375857.4:p.Ala705= | |
| ENST00000483443.1:n.235+3622C= | ||
| NM_001137550.1:c.1459+3622C= | NP_001131022.1:n.1459+3622C= | |
| NM_001137551.1:c.721+3622C= | NP_001131023.1:n.721+3622C= | |
| NM_001137552.1:c.2114C= | NP_001131024.1:p.Ala705= | |
| NM_001137553.1:c.1946C= | NP_001131025.1:p.Ala649= | |
| NM_004735.3:c.2042C= | NP_004726.2:p.Ala681= | |
| XM_005246112.3:c.2747C= | XP_005246169.1:p.Ala916= | |
| XM_005246115.3:c.2702C= | XP_005246172.1:p.Ala901= | |
| XM_005246116.3:c.2684C= | XP_005246173.1:p.Ala895= | |
| XM_005246118.3:c.2639C= | XP_005246175.1:p.Ala880= | |
| XM_005246119.3:c.2636C= | XP_005246176.1:p.Ala879= | |
| XM_005246120.3:c.2600C= | XP_005246177.1:p.Ala867= | |
| XM_005246121.3:c.2585C= | XP_005246178.1:p.Ala862= | |
| XM_005246122.3:c.2573C= | XP_005246179.1:p.Ala858= | |
| XM_005246124.1:c.2555C= | XP_005246181.1:p.Ala852= | |
| XM_005246125.3:c.2534C= | XP_005246182.1:p.Ala845= | |
| XM_005246126.3:c.2495C= | XP_005246183.1:p.Ala832= | |
| XM_005246128.1:c.2462C= | XP_005246185.1:p.Ala821= | |
| XM_005246129.3:c.2423C= | XP_005246186.1:p.Ala808= | |
| XM_005246130.3:c.2396C= | XP_005246187.1:p.Ala799= | |
| XM_005246131.3:c.2309C= | XP_005246188.1:p.Ala770= | |
| XM_005246132.3:c.2234C= | XP_005246189.1:p.Ala745= | |
| XM_005246133.1:c.2204C= | XP_005246190.1:p.Ala735= | |
| XM_005246134.1:c.2162C= | XP_005246191.1:p.Ala721= | |
| XM_005246135.1:c.2132C= | XP_005246192.1:p.Ala711= | |
| XM_005246136.1:c.1976C= | XP_005246193.1:p.Ala659= | |
| XM_005246141.3:c.823+3622C= | XP_005246198.1:n.823+3622C= | |
| XM_005246142.1:c.751+3622C= | XP_005246199.1:n.751+3622C= | |
| XM_006712842.2:c.2645C= | XP_006712905.1:p.Ala882= | |
| XM_006712843.2:c.2540C= | XP_006712906.1:p.Ala847= | |
| XM_006712844.1:c.2474C= | XP_006712907.1:p.Ala825= | |
| XM_006712845.2:c.2456C= | XP_006712908.1:p.Ala819= | |
| XM_006712846.1:c.2360C= | XP_006712909.1:p.Ala787= | |
| XM_006712847.1:c.2300C= | XP_006712910.1:p.Ala767= | |
| XM_006712848.1:c.2228C= | XP_006712911.1:p.Ala743= | |
| XM_011512152.1:c.2780C= | XP_011510454.1:p.Ala927= | |
| XM_011512153.1:c.2762C= | XP_011510455.1:p.Ala921= | |
| XM_011512154.1:c.2750C= | XP_011510456.1:p.Ala917= | |
| XM_011512155.1:c.2741C= | XP_011510457.1:p.Ala914= | |
| XM_011512156.1:c.2708C= | XP_011510458.1:p.Ala903= | |
| XM_011512157.1:c.2594C= | XP_011510459.1:p.Ala865= | |
| XM_011512158.1:c.2522C= | XP_011510460.1:p.Ala841= | |
| XM_011512159.1:c.2330C= | XP_011510461.1:p.Ala777= | |
| XM_011512160.1:c.1555+3622C= | XP_011510462.1:n.1555+3622C= | |
| XM_011512161.1:c.1555+3622C= | XP_011510463.1:n.1555+3622C= | |
| XM_011512162.1:c.1369+3622C= | XP_011510464.1:n.1369+3622C= | |
| XM_011512163.1:c.1297+3622C= | XP_011510465.1:n.1297+3622C= | |
| XM_011512164.1:c.751+3622C= | XP_011510466.1:n.751+3622C= | |
| XM_011512165.1:c.721+3622C= | XP_011510467.1:n.721+3622C= | |
| XM_011512166.1:c.1516+3622C= | XP_011510468.1:n.1516+3622C= | |
| XR_923063.1:n.1605+3622C= | ||
| XM_005246141.4:c.823+3622C= | XP_005246198.1:n.823+3622C= | |
| XM_005246142.2:c.751+3622C= | XP_005246199.1:n.751+3622C= | |
| XM_017005253.2:c.1522+3622C= | XP_016860742.1:n.1522+3622C= | |
| XM_017005254.2:c.1522+3622C= | XP_016860743.1:n.1522+3622C= | |
| XM_017005255.2:c.1450+3622C= | XP_016860744.1:n.1450+3622C= | |
| XM_017005256.2:c.1336+3622C= | XP_016860745.1:n.1336+3622C= | |
| XM_017005257.2:c.1387+3622C= | XP_016860746.1:n.1387+3622C= | |
| XM_017005258.2:c.1336+3622C= | XP_016860747.1:n.1336+3622C= | |
| XM_017005260.2:c.1162+3622C= | XP_016860749.1:n.1162+3622C= | |
| XM_017005261.2:c.1099+3622C= | XP_016860750.1:n.1099+3622C= | |
| XM_017005262.2:c.1099+3622C= | XP_016860751.1:n.1099+3622C= | |
| XM_017005263.2:c.937+3622C= | XP_016860752.1:n.937+3622C= | |
| XR_001739039.2:n.2816C= | ||
| XR_001739040.1:n.2981C= | ||
| XR_001739041.2:n.2777C= | ||
| XR_001739042.2:n.2753C= | ||
| XR_001739043.1:n.2729C= | ||
| XR_001739044.2:n.2744C= | ||
| XR_001739045.2:n.2714C= | ||
| XR_001739046.1:n.3061C= | ||
| XR_001739047.2:n.2630C= | ||
| XR_001739048.1:n.2819C= | ||
| XR_001739049.2:n.2564C= | ||
| XR_001739050.2:n.2525C= | ||
| XR_001739051.2:n.2492C= | ||
| XR_001739052.2:n.2465C= | ||
| XR_001739053.1:n.2454C= | ||
| XR_001739054.1:n.2376C= | ||
| XR_001739055.2:n.2393C= | ||
| XR_001739056.2:n.2378C= | ||
| XR_001739057.1:n.2394C= | ||
| XR_001739058.1:n.2573C= | ||
| XR_001739059.2:n.2306C= | ||
| XR_001739060.1:n.2280C= | ||
| XR_001739061.1:n.2322C= | ||
| XR_001739062.1:n.2499C= | ||
| XR_001739063.1:n.2206C= | ||
| XR_001739064.1:n.2467C= | ||
| XR_001739065.1:n.2411C= | ||
| XR_001739066.1:n.2208C= | ||
| XR_001739067.1:n.2115C= | ||
| XR_001739068.1:n.2136C= | ||
| XR_001739069.1:n.2313C= | ||
| XR_001739070.1:n.2177C= | ||
| XR_001739071.1:n.2035C= | ||
| XR_001739072.1:n.2281C= | ||
| XR_001739073.2:n.1591+3622C= | ||
| XR_002959364.1:n.2207C= | ||
| NM_001137550.2:c.1459+3622C= MANE Select | NP_001131022.1:n.1459+3622C= | |
| NM_001137552.2:c.2114C= | NP_001131024.1:p.Ala705= | |
| NM_001137553.2:c.1946C= | NP_001131025.1:p.Ala649= | |
| NM_004735.4:c.2042C= | NP_004726.2:p.Ala681= | |
| NM_001137551.2:c.721+3622C= | NP_001131023.1:n.721+3622C= |