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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_000010.11:g.17146675A= , CM000672.2:g.17146675A=
GRCh38
NC_000010.10:g.17188674A= , CM000672.1:g.17188674A=
GRCh37
NC_000010.9:g.17228680A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000377799.8:c.*2365T=
MANE Select
ENSP00000367030.3:n.*2365T=
ENST00000354631.7:c.*3561T=
ENSP00000346652.3:n.*3561T=
NM_004412.5:c.*2365T=
NP_004403.1:n.*2365T=
XM_005252374.3:c.1075+6832T=
XP_005252431.1:n.1075+6832T=
XM_005252375.3:c.*2365T=
XP_005252432.1:n.*2365T=
XM_005252376.2:c.*2365T=
XP_005252433.1:n.*2365T=
XM_006717388.2:c.*2365T=
XP_006717451.1:n.*2365T=
XM_011519343.1:c.*2365T=
XP_011517645.1:n.*2365T=
XM_011519344.1:c.*2365T=
XP_011517646.1:n.*2365T=
XM_011519345.1:c.*2365T=
XP_011517647.1:n.*2365T=
XM_011519346.1:c.*2365T=
XP_011517648.1:n.*2365T=
XM_011519347.1:c.*2365T=
XP_011517649.1:n.*2365T=
NM_001321006.1:c.*2365T=
NP_001307935.1:n.*2365T=
NM_001321007.1:c.*2365T=
NP_001307936.1:n.*2365T=
NM_001351219.1:c.*2365T=
NP_001338148.1:n.*2365T=
NM_001351221.1:c.*2365T=
NP_001338150.1:n.*2365T=
NM_004412.6:c.*2365T=
NP_004403.1:n.*2365T=
XM_005252374.5:c.1075+6832T=
XP_005252431.1:n.1075+6832T=
XM_005252375.4:c.*2365T=
XP_005252432.1:n.*2365T=
XM_011519343.2:c.*2365T=
XP_011517645.1:n.*2365T=
XM_011519344.2:c.*2365T=
XP_011517646.1:n.*2365T=
XM_011519345.3:c.*2365T=
XP_011517647.1:n.*2365T=
XM_017015802.2:c.*2365T=
XP_016871291.1:n.*2365T=
XM_017015803.2:c.*2365T=
XP_016871292.1:n.*2365T=
XM_017015804.2:c.*2365T=
XP_016871293.1:n.*2365T=
XM_017015806.1:c.*2365T=
XP_016871295.1:n.*2365T=
XM_017015809.1:c.*2365T=
XP_016871298.1:n.*2365T=
XM_017015812.1:c.*2365T=
XP_016871301.1:n.*2365T=
XM_024447856.1:c.*2365T=
XP_024303624.1:n.*2365T=
XM_024447857.1:c.*2365T=
XP_024303625.1:n.*2365T=
XM_024447858.1:c.*2365T=
XP_024303626.1:n.*2365T=
NM_004412.7:c.*2365T=
MANE Select
NP_004403.1:n.*2365T=
NM_001321006.2:c.*2365T=
NP_001307935.1:n.*2365T=
NM_001321007.2:c.*2365T=
NP_001307936.1:n.*2365T=
NM_001351219.2:c.*2365T=
NP_001338148.1:n.*2365T=
NM_001351221.2:c.*2365T=
NP_001338150.1:n.*2365T=