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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.83353243C= , CM000667.2:g.83353243C=
GRCh38
NC_000005.9:g.82649062C= , CM000667.1:g.82649062C=
GRCh37
NC_000005.8:g.82684818C=
NCBI36
NG_047086.1:g.280835C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396027.9:c.*1C=
MANE Select
ENSP00000379344.4:n.*1C=
ENST00000282268.7:c.*1C=
ENSP00000282268.3:n.*1C=
ENST00000338635.10:c.*1C=
ENSP00000342011.6:n.*1C=
ENST00000396027.8:c.*1C=
ENSP00000379344.4:n.*1C=
ENST00000511817.1:c.*1C=
ENSP00000421491.1:n.*1C=
NM_003401.3:c.*1C=
NP_003392.1:n.*1C=
NM_022406.2:c.*1C=
NP_071801.1:n.*1C=
NM_022550.2:c.*1C=
NP_072044.1:n.*1C=
XM_005248595.1:c.*1C=
XP_005248652.1:n.*1C=
XM_011543626.1:c.*1C=
XP_011541928.1:n.*1C=
XM_011543629.1:c.*1C=
XP_011541931.1:n.*1C=
NM_001318012.1:c.*1C=
NP_001304941.1:n.*1C=
NM_003401.4:c.*1C=
NP_003392.1:n.*1C=
NM_022406.3:c.*1C=
NP_071801.1:n.*1C=
NM_022550.3:c.*1C=
NP_072044.1:n.*1C=
XM_017009827.2:c.894-17024C=
XP_016865316.1:n.894-17024C=
NM_001318012.2:c.*1C=
NP_001304941.1:n.*1C=
NM_003401.5:c.*1C=
MANE Select
NP_003392.1:n.*1C=
NM_022406.4:c.*1C=
NP_071801.1:n.*1C=
NM_001318012.3:c.*1C=
NP_001304941.1:n.*1C=
NM_022406.5:c.*1C=
NP_071801.1:n.*1C=
NM_022550.4:c.*1C=
NP_072044.1:n.*1C=