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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_000017.11:g.45143649G= , CM000679.2:g.45143649G=
GRCh38
NC_000017.10:g.43221016G= , CM000679.1:g.43221016G=
GRCh37
NC_000017.9:g.40576799G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000321854.13:c.*78G=
MANE Select
ENSP00000314440.8:n.*78G=
ENST00000321854.12:c.*78G=
ENSP00000314440.8:n.*78G=
ENST00000398322.7:c.*78G=
ENSP00000381367.2:n.*78G=
ENST00000431281.5:c.*8G=
ENSP00000405969.1:n.*8G=
ENST00000585553.5:n.1714G=
ENST00000586346.5:c.*8G=
ENSP00000465484.1:n.*8G=
ENST00000591859.5:c.*8G=
ENSP00000465610.1:n.*8G=
ENST00000592162.5:c.*46G=
ENSP00000466305.1:n.*46G=
NM_001135704.1:c.*8G=
NP_001129176.1:n.*8G=
NM_001135705.1:c.*78G=
NP_001129177.1:n.*78G=
NM_001135706.1:c.*8G=
NP_001129178.1:n.*8G=
NM_024722.2:c.*78G=
NP_078998.1:n.*78G=
XM_005257673.1:c.*8G=
XP_005257730.1:n.*8G=
XM_005257674.1:c.*8G=
XP_005257731.1:n.*8G=
XM_005257677.1:c.*8G=
XP_005257734.1:n.*8G=
XM_006722085.1:c.*78G=
XP_006722148.1:n.*78G=
XM_006722088.1:c.*78G=
XP_006722151.1:n.*78G=
XM_006722089.1:c.*46G=
XP_006722152.1:n.*46G=
XM_006722090.1:c.*46G=
XP_006722153.1:n.*46G=
XM_011525255.1:c.*8G=
XP_011523557.1:n.*8G=
XM_011525256.1:c.*8G=
XP_011523558.1:n.*8G=
XM_011525257.1:c.*78G=
XP_011523559.1:n.*78G=
NM_001135705.2:c.*78G=
NP_001129177.1:n.*78G=
NM_001135706.2:c.*8G=
NP_001129178.1:n.*8G=
NM_001135707.2:c.*1039G=
NP_001129179.1:n.*1039G=
NM_001321352.1:c.*8G=
NP_001308281.1:n.*8G=
NM_001321353.1:c.*8G=
NP_001308282.1:n.*8G=
NM_024722.3:c.*78G=
NP_078998.1:n.*78G=
XM_006722085.2:c.*78G=
XP_006722148.1:n.*78G=
XM_017025084.1:c.*8G=
XP_016880573.1:n.*8G=
XM_017025085.1:c.*8G=
XP_016880574.1:n.*8G=
XM_017025086.1:c.*8G=
XP_016880575.1:n.*8G=
XM_017025087.1:c.*8G=
XP_016880576.1:n.*8G=
XM_017025088.1:c.*8G=
XP_016880577.1:n.*8G=
XM_017025089.2:c.*869G=
XP_016880578.1:n.*869G=
XM_017025090.1:c.*78G=
XP_016880579.1:n.*78G=
XM_017025091.1:c.*78G=
XP_016880580.1:n.*78G=
XM_017025092.2:c.*78G=
XP_016880581.1:n.*78G=
XM_017025094.1:c.*1039G=
XP_016880583.1:n.*1039G=
XM_017025095.1:c.*78G=
XP_016880584.1:n.*78G=
XM_017025096.1:c.*46G=
XP_016880585.1:n.*46G=
XM_017025097.1:c.*78G=
XP_016880586.1:n.*78G=
XM_017025098.1:c.*78G=
XP_016880587.1:n.*78G=
XM_017025099.1:c.*46G=
XP_016880588.1:n.*46G=
XM_024450949.1:c.*869G=
XP_024306717.1:n.*869G=
NM_001135705.3:c.*78G=
MANE Select
NP_001129177.1:n.*78G=
NM_001135706.3:c.*8G=
NP_001129178.1:n.*8G=
NM_001135707.3:c.*1039G=
NP_001129179.1:n.*1039G=
NM_001321352.2:c.*8G=
NP_001308281.1:n.*8G=
NM_001321353.2:c.*8G=
NP_001308282.1:n.*8G=
NM_024722.4:c.*78G=
NP_078998.1:n.*78G=
NM_001378111.1:c.*1039G=
NP_001365040.1:n.*1039G=
NM_001378112.1:c.*1039G=
NP_001365041.1:n.*1039G=