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.237763823A= , CM000664.2:g.237763823A= | GRCh38 |
| NC_000002.11:g.238672466A= , CM000664.1:g.238672466A= | GRCh37 |
| NC_000002.10:g.238337205A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3618A= | ||
| ENST00000698098.1:c.955+3618A= | ENSP00000513562.1:n.955+3618A= | |
| ENST00000308482.14:c.1459+3618A= MANE Select | ENSP00000310109.9:n.1459+3618A= | |
| ENST00000244815.9:c.2038A= | ENSP00000244815.5:p.Asn680= | |
| ENST00000289175.10:c.1942A= | ENSP00000289175.6:p.Asn648= | |
| ENST00000308482.13:c.1459+3618A= | ENSP00000310109.9:n.1459+3618A= | |
| ENST00000392000.4:c.2110A= | ENSP00000375857.4:p.Asn704= | |
| ENST00000483443.1:n.235+3618A= | ||
| NM_001137550.1:c.1459+3618A= | NP_001131022.1:n.1459+3618A= | |
| NM_001137551.1:c.721+3618A= | NP_001131023.1:n.721+3618A= | |
| NM_001137552.1:c.2110A= | NP_001131024.1:p.Asn704= | |
| NM_001137553.1:c.1942A= | NP_001131025.1:p.Asn648= | |
| NM_004735.3:c.2038A= | NP_004726.2:p.Asn680= | |
| XM_005246112.3:c.2743A= | XP_005246169.1:p.Asn915= | |
| XM_005246115.3:c.2698A= | XP_005246172.1:p.Asn900= | |
| XM_005246116.3:c.2680A= | XP_005246173.1:p.Asn894= | |
| XM_005246118.3:c.2635A= | XP_005246175.1:p.Asn879= | |
| XM_005246119.3:c.2632A= | XP_005246176.1:p.Asn878= | |
| XM_005246120.3:c.2596A= | XP_005246177.1:p.Asn866= | |
| XM_005246121.3:c.2581A= | XP_005246178.1:p.Asn861= | |
| XM_005246122.3:c.2569A= | XP_005246179.1:p.Asn857= | |
| XM_005246124.1:c.2551A= | XP_005246181.1:p.Asn851= | |
| XM_005246125.3:c.2530A= | XP_005246182.1:p.Asn844= | |
| XM_005246126.3:c.2491A= | XP_005246183.1:p.Asn831= | |
| XM_005246128.1:c.2458A= | XP_005246185.1:p.Asn820= | |
| XM_005246129.3:c.2419A= | XP_005246186.1:p.Asn807= | |
| XM_005246130.3:c.2392A= | XP_005246187.1:p.Asn798= | |
| XM_005246131.3:c.2305A= | XP_005246188.1:p.Asn769= | |
| XM_005246132.3:c.2230A= | XP_005246189.1:p.Asn744= | |
| XM_005246133.1:c.2200A= | XP_005246190.1:p.Asn734= | |
| XM_005246134.1:c.2158A= | XP_005246191.1:p.Asn720= | |
| XM_005246135.1:c.2128A= | XP_005246192.1:p.Asn710= | |
| XM_005246136.1:c.1972A= | XP_005246193.1:p.Asn658= | |
| XM_005246141.3:c.823+3618A= | XP_005246198.1:n.823+3618A= | |
| XM_005246142.1:c.751+3618A= | XP_005246199.1:n.751+3618A= | |
| XM_006712842.2:c.2641A= | XP_006712905.1:p.Asn881= | |
| XM_006712843.2:c.2536A= | XP_006712906.1:p.Asn846= | |
| XM_006712844.1:c.2470A= | XP_006712907.1:p.Asn824= | |
| XM_006712845.2:c.2452A= | XP_006712908.1:p.Asn818= | |
| XM_006712846.1:c.2356A= | XP_006712909.1:p.Asn786= | |
| XM_006712847.1:c.2296A= | XP_006712910.1:p.Asn766= | |
| XM_006712848.1:c.2224A= | XP_006712911.1:p.Asn742= | |
| XM_011512152.1:c.2776A= | XP_011510454.1:p.Asn926= | |
| XM_011512153.1:c.2758A= | XP_011510455.1:p.Asn920= | |
| XM_011512154.1:c.2746A= | XP_011510456.1:p.Asn916= | |
| XM_011512155.1:c.2737A= | XP_011510457.1:p.Asn913= | |
| XM_011512156.1:c.2704A= | XP_011510458.1:p.Asn902= | |
| XM_011512157.1:c.2590A= | XP_011510459.1:p.Asn864= | |
| XM_011512158.1:c.2518A= | XP_011510460.1:p.Asn840= | |
| XM_011512159.1:c.2326A= | XP_011510461.1:p.Asn776= | |
| XM_011512160.1:c.1555+3618A= | XP_011510462.1:n.1555+3618A= | |
| XM_011512161.1:c.1555+3618A= | XP_011510463.1:n.1555+3618A= | |
| XM_011512162.1:c.1369+3618A= | XP_011510464.1:n.1369+3618A= | |
| XM_011512163.1:c.1297+3618A= | XP_011510465.1:n.1297+3618A= | |
| XM_011512164.1:c.751+3618A= | XP_011510466.1:n.751+3618A= | |
| XM_011512165.1:c.721+3618A= | XP_011510467.1:n.721+3618A= | |
| XM_011512166.1:c.1516+3618A= | XP_011510468.1:n.1516+3618A= | |
| XR_923063.1:n.1605+3618A= | ||
| XM_005246141.4:c.823+3618A= | XP_005246198.1:n.823+3618A= | |
| XM_005246142.2:c.751+3618A= | XP_005246199.1:n.751+3618A= | |
| XM_017005253.2:c.1522+3618A= | XP_016860742.1:n.1522+3618A= | |
| XM_017005254.2:c.1522+3618A= | XP_016860743.1:n.1522+3618A= | |
| XM_017005255.2:c.1450+3618A= | XP_016860744.1:n.1450+3618A= | |
| XM_017005256.2:c.1336+3618A= | XP_016860745.1:n.1336+3618A= | |
| XM_017005257.2:c.1387+3618A= | XP_016860746.1:n.1387+3618A= | |
| XM_017005258.2:c.1336+3618A= | XP_016860747.1:n.1336+3618A= | |
| XM_017005260.2:c.1162+3618A= | XP_016860749.1:n.1162+3618A= | |
| XM_017005261.2:c.1099+3618A= | XP_016860750.1:n.1099+3618A= | |
| XM_017005262.2:c.1099+3618A= | XP_016860751.1:n.1099+3618A= | |
| XM_017005263.2:c.937+3618A= | XP_016860752.1:n.937+3618A= | |
| XR_001739039.2:n.2812A= | ||
| XR_001739040.1:n.2977A= | ||
| XR_001739041.2:n.2773A= | ||
| XR_001739042.2:n.2749A= | ||
| XR_001739043.1:n.2725A= | ||
| XR_001739044.2:n.2740A= | ||
| XR_001739045.2:n.2710A= | ||
| XR_001739046.1:n.3057A= | ||
| XR_001739047.2:n.2626A= | ||
| XR_001739048.1:n.2815A= | ||
| XR_001739049.2:n.2560A= | ||
| XR_001739050.2:n.2521A= | ||
| XR_001739051.2:n.2488A= | ||
| XR_001739052.2:n.2461A= | ||
| XR_001739053.1:n.2450A= | ||
| XR_001739054.1:n.2372A= | ||
| XR_001739055.2:n.2389A= | ||
| XR_001739056.2:n.2374A= | ||
| XR_001739057.1:n.2390A= | ||
| XR_001739058.1:n.2569A= | ||
| XR_001739059.2:n.2302A= | ||
| XR_001739060.1:n.2276A= | ||
| XR_001739061.1:n.2318A= | ||
| XR_001739062.1:n.2495A= | ||
| XR_001739063.1:n.2202A= | ||
| XR_001739064.1:n.2463A= | ||
| XR_001739065.1:n.2407A= | ||
| XR_001739066.1:n.2204A= | ||
| XR_001739067.1:n.2111A= | ||
| XR_001739068.1:n.2132A= | ||
| XR_001739069.1:n.2309A= | ||
| XR_001739070.1:n.2173A= | ||
| XR_001739071.1:n.2031A= | ||
| XR_001739072.1:n.2277A= | ||
| XR_001739073.2:n.1591+3618A= | ||
| XR_002959364.1:n.2203A= | ||
| NM_001137550.2:c.1459+3618A= MANE Select | NP_001131022.1:n.1459+3618A= | |
| NM_001137552.2:c.2110A= | NP_001131024.1:p.Asn704= | |
| NM_001137553.2:c.1942A= | NP_001131025.1:p.Asn648= | |
| NM_004735.4:c.2038A= | NP_004726.2:p.Asn680= | |
| NM_001137551.2:c.721+3618A= | NP_001131023.1:n.721+3618A= |