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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_000004.12:g.42410428T= , CM000666.2:g.42410428T=
GRCh38
NC_000004.11:g.42412445T= , CM000666.1:g.42412445T=
GRCh37
NC_000004.10:g.42107202T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000700470.1:c.*2488A=
ENSP00000515003.1:n.*2488A=
ENST00000264449.14:c.*2488A=
ENSP00000264449.10:n.*2488A=
ENST00000381668.9:c.*2488A=
MANE Select
ENSP00000371084.5:n.*2488A=
ENST00000514372.5:c.3863A=
ENSP00000426495.1:n.3863A=
NM_001105529.1:c.*2488A=
NP_001098999.1:n.*2488A=
NM_006095.2:c.*2488A=
MANE Select
NP_006086.1:n.*2488A=
XM_005248043.2:c.*2488A=
XP_005248100.1:n.*2488A=
XM_011513615.1:c.*2488A=
XP_011511917.1:n.*2488A=
XM_011513616.1:c.*2488A=
XP_011511918.1:n.*2488A=
XM_011513618.1:c.*2488A=
XP_011511920.1:n.*2488A=
XM_011513619.1:c.*2488A=
XP_011511921.1:n.*2488A=
XR_925118.1:n.6037A=
XM_005248043.3:c.*2488A=
XP_005248100.1:n.*2488A=
XM_011513615.2:c.*2488A=
XP_011511917.1:n.*2488A=
XM_011513616.3:c.*2488A=
XP_011511918.1:n.*2488A=
XM_011513618.2:c.*2488A=
XP_011511920.1:n.*2488A=
XM_017007645.2:c.*2488A=
XP_016863134.1:n.*2488A=
XM_017007646.1:c.*2488A=
XP_016863135.1:n.*2488A=
XM_017007647.1:c.*2488A=
XP_016863136.1:n.*2488A=
XR_001741094.2:n.6056A=
XR_925117.3:n.6250A=
XR_925118.2:n.6042A=
NM_001400024.1:c.*2488A=
NP_001386953.1:n.*2488A=
NM_001400025.1:c.*2488A=
NP_001386954.1:n.*2488A=
NM_001400026.1:c.*2488A=
NP_001386955.1:n.*2488A=
NM_001400027.1:c.*2488A=
NP_001386956.1:n.*2488A=