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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_000001.11:g.77942962C>A , CM000663.2:g.77942962C>A
GRCh38
NC_000001.10:g.78408647C>A , CM000663.1:g.78408647C>A
GRCh37
NC_000001.9:g.78181235C>A
NCBI36
NG_016625.1:g.59448C>A , LRG_442:g.59448C>A
NG_033243.2:g.41132G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000334785.12:c.*133C>A
MANE Select
ENSP00000333938.7:n.*133C>A
ENST00000330010.12:c.*133C>A
ENSP00000327363.8:n.*133C>A
ENST00000334785.11:c.*133C>A
ENSP00000333938.7:n.*133C>A
ENST00000342754.5:c.1779C>A
ENST00000480732.2:n.1735C>A
NM_001172309.1:c.*133C>A
NP_001165780.1:n.*133C>A
NM_144573.3:c.*133C>A , LRG_442t1:c.*133C>A
NP_653174.3:n.*133C>A
XM_005271322.2:c.*49C>A
XP_005271379.1:n.*49C>A
XM_005271323.2:c.*49C>A
XP_005271380.1:n.*49C>A
XM_005271324.3:c.*49C>A
XP_005271381.1:n.*49C>A
XM_005271325.2:c.*49C>A
XP_005271382.1:n.*49C>A
XM_005271326.2:c.*49C>A
XP_005271383.1:n.*49C>A
XM_005271327.2:c.*49C>A
XP_005271384.1:n.*49C>A
XM_005271322.4:c.*49C>A
XP_005271379.1:n.*49C>A
XM_005271323.4:c.*49C>A
XP_005271380.1:n.*49C>A
XM_005271324.5:c.*49C>A
XP_005271381.1:n.*49C>A
XM_005271325.4:c.*49C>A
XP_005271382.1:n.*49C>A
XM_005271326.4:c.*49C>A
XP_005271383.1:n.*49C>A
XM_005271327.4:c.*49C>A
XP_005271384.1:n.*49C>A
NM_001172309.2:c.*133C>A
NP_001165780.1:n.*133C>A
NM_144573.4:c.*133C>A
MANE Select
NP_653174.3:n.*133C>A