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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.243426539C= , CM000663.2:g.243426539C=
GRCh38
NC_000001.10:g.243589841C= , CM000663.1:g.243589841C=
GRCh37
NC_000001.9:g.241656464C=
NCBI36
NG_027811.1:g.175535C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366541.8:c.1966C=
MANE Select
ENSP00000355499.3:p.His656=
ENST00000366541.7:c.1966C=
ENSP00000355499.3:p.His656=
ENST00000435549.1:c.1069C=
ENSP00000410200.1:p.His357=
ENST00000463042.1:n.173C=
NM_006642.3:c.1966C=
NP_006633.1:p.His656=
XM_005273013.3:c.1837C=
XP_005273070.1:p.His613=
XM_005273018.1:c.1543C=
XP_005273075.1:p.His515=
XM_005273021.3:c.1063C=
XP_005273078.1:p.His355=
XM_005273022.2:c.1045C=
XP_005273079.1:p.His349=
XM_006711727.2:c.1996C=
XP_006711790.1:p.His666=
XM_006711728.2:c.1867C=
XP_006711791.1:p.His623=
XM_006711729.2:c.1807C=
XP_006711792.1:p.His603=
XM_011544021.1:c.2092C=
XP_011542323.1:p.His698=
XM_011544022.1:c.2062C=
XP_011542324.1:p.His688=
XM_011544023.1:c.2092C=
XP_011542325.1:p.His698=
XM_011544024.1:c.2092C=
XP_011542326.1:p.His698=
XM_011544025.1:c.1903C=
XP_011542327.1:p.His635=
XM_011544026.1:c.1855C=
XP_011542328.1:p.His619=
XM_011544027.1:c.1678C=
XP_011542329.1:p.His560=
XM_011544028.1:c.1630C=
XP_011542330.1:p.His544=
XM_011544030.1:c.1021C=
XP_011542332.1:p.His341=
XR_949128.1:n.2116C=
NM_001350246.1:c.1063C=
NP_001337175.1:p.His355=
NM_001350247.1:c.1063C=
NP_001337176.1:p.His355=
NM_001350248.1:c.2062C=
NP_001337177.1:p.His688=
NM_001350249.1:c.1672C=
NP_001337178.1:p.His558=
NM_001350251.1:c.1063C=
NP_001337180.1:p.His355=
NM_006642.4:c.1966C=
NP_006633.1:p.His656=
XM_005273013.5:c.1837C=
XP_005273070.1:p.His613=
XM_005273018.2:c.1543C=
XP_005273075.1:p.His515=
XM_005273022.4:c.1045C=
XP_005273079.1:p.His349=
XM_011544026.3:c.1855C=
XP_011542328.1:p.His619=
XM_011544028.3:c.1630C=
XP_011542330.1:p.His544=
XM_011544030.3:c.1021C=
XP_011542332.1:p.His341=
XM_017000104.2:c.1837C=
XP_016855593.1:p.His613=
XM_017000105.2:c.1729C=
XP_016855594.1:p.His577=
XM_024452537.1:c.1768C=
XP_024308305.1:p.His590=
XM_024452539.1:c.1768C=
XP_024308307.1:p.His590=
XM_024452540.1:c.1768C=
XP_024308308.1:p.His590=
XM_024452547.1:c.1672C=
XP_024308315.1:p.His558=
XM_024452548.1:c.1768C=
XP_024308316.1:p.His590=
XM_024452549.1:c.1435C=
XP_024308317.1:p.His479=
XR_002958955.1:n.2008C=
XR_002958956.1:n.2008C=
XR_002958965.1:n.1899C=
NM_006642.5:c.1966C=
MANE Select
NP_006633.1:p.His656=
NM_001350246.2:c.1063C=
NP_001337175.1:p.His355=
NM_001350247.2:c.1063C=
NP_001337176.1:p.His355=
NM_001350248.2:c.2062C=
NP_001337177.1:p.His688=
NM_001350249.2:c.1672C=
NP_001337178.1:p.His558=
NM_001350251.2:c.1063C=
NP_001337180.1:p.His355=