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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_000012.12:g.47973161T>C , CM000674.2:g.47973161T>C
GRCh38
NC_000012.11:g.48366944T>C , CM000674.1:g.48366944T>C
GRCh37
NC_000012.10:g.46653211T>C
NCBI36
NG_008072.1:g.36342A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380518.8:c.*246A>G
MANE Select
ENSP00000369889.3:n.*246A>G
ENST00000380518.7:c.*246A>G
ENSP00000369889.3:n.*246A>G
NM_001844.4:c.*246A>G
NP_001835.3:n.*246A>G
NM_033150.2:c.*246A>G
NP_149162.2:n.*246A>G
XM_006719242.2:c.*246A>G
XP_006719305.2:n.*246A>G
XM_011537928.1:c.*246A>G
XP_011536230.1:n.*246A>G
XM_011537929.1:c.*246A>G
XP_011536231.1:n.*246A>G
XM_011537930.1:c.*246A>G
XP_011536232.1:n.*246A>G
XM_011537931.1:c.*246A>G
XP_011536233.1:n.*246A>G
XM_011537932.1:c.*246A>G
XP_011536234.1:n.*246A>G
XM_011537933.1:c.*246A>G
XP_011536235.1:n.*246A>G
XM_011537934.1:c.*246A>G
XP_011536236.1:n.*246A>G
XM_011537935.1:c.*246A>G
XP_011536237.1:n.*246A>G
XM_017018828.1:c.*246A>G
XP_016874317.1:n.*246A>G
XM_017018829.1:c.*246A>G
XP_016874318.1:n.*246A>G
XM_017018830.1:c.*246A>G
XP_016874319.1:n.*246A>G
XM_017018831.2:c.*246A>G
XP_016874320.1:n.*246A>G
NM_001844.5:c.*246A>G
MANE Select
NP_001835.3:n.*246A>G
NM_033150.3:c.*246A>G
NP_149162.2:n.*246A>G