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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_000021.9:g.34789962G= , CM000683.2:g.34789962G=
GRCh38
NC_000021.8:g.36162259G= , CM000683.1:g.36162259G=
GRCh37
NC_000021.7:g.35084129G=
NCBI36
NG_011402.2:g.1199750C= , LRG_482:g.1199750C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000675419.1:c.*2173C=
MANE Select
ENSP00000501943.1:n.*2173C=
ENST00000300305.7:c.*2173C=
ENSP00000300305.3:n.*2173C=
ENST00000344691.8:c.*2173C=
ENSP00000340690.4:n.*2173C=
ENST00000437180.5:c.*2173C=
ENSP00000409227.1:n.*2173C=
NM_001001890.2:c.*2173C=
NP_001001890.1:n.*2173C=
NM_001754.4:c.*2173C= , LRG_482t1:c.*2173C=
NP_001745.2:n.*2173C=
XM_005261068.3:c.*2173C=
XP_005261125.1:n.*2173C=
XM_005261069.3:c.*2173C=
XP_005261126.1:n.*2173C=
XM_011529766.1:c.*2173C=
XP_011528068.1:n.*2173C=
XM_011529767.1:c.*2173C=
XP_011528069.1:n.*2173C=
XM_011529768.1:c.*2173C=
XP_011528070.1:n.*2173C=
XM_005261069.4:c.*2173C=
XP_005261126.1:n.*2173C=
XM_011529766.2:c.*2173C=
XP_011528068.1:n.*2173C=
XM_011529767.2:c.*2173C=
XP_011528069.1:n.*2173C=
XM_011529768.2:c.*2173C=
XP_011528070.1:n.*2173C=
XM_017028487.1:c.*2173C=
XP_016883976.1:n.*2173C=
NM_001001890.3:c.*2173C=
NP_001001890.1:n.*2173C=
NM_001754.5:c.*2173C=
MANE Select
NP_001745.2:n.*2173C=