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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_000006.12:g.31969876A= , CM000668.2:g.31969876A=
GRCh38
NC_000006.11:g.31937653A= , CM000668.1:g.31937653A=
GRCh37
NC_000006.10:g.32045632A=
NCBI36
NG_032652.1:g.16073A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000337523.10:c.*1T=
MANE Select
ENSP00000337759.5:n.*1T=
ENST00000337523.9:c.*1T=
ENSP00000337759.5:n.*1T=
ENST00000375349.7:c.*1T=
ENSP00000364498.3:n.*1T=
ENST00000375356.7:c.*1T=
ENSP00000364505.3:n.*1T=
ENST00000473976.1:n.1964T=
ENST00000477826.5:n.2027T=
ENST00000478221.5:n.1073T=
ENST00000485557.5:n.1812T=
ENST00000491327.5:n.1329T=
ENST00000495340.5:c.525T=
NM_005510.3:c.*1T=
NP_005501.2:n.*1T=
XM_006715005.2:c.*1T=
XP_006715068.1:n.*1T=
XM_006715007.2:c.*1T=
XP_006715070.1:n.*1T=
XR_926081.1:n.1665T=
XR_926082.1:n.1692T=
XM_006715005.3:c.*1T=
XP_006715068.1:n.*1T=
XM_017010329.1:c.*1T=
XP_016865818.1:n.*1T=
XR_002956262.1:n.1424T=
XR_002956263.1:n.1590T=
XR_002956264.1:n.1490T=
XR_926082.2:n.1432T=
NM_005510.4:c.*1T=
MANE Select
NP_005501.2:n.*1T=
NM_001371205.1:c.*1T=
NP_001358134.1:n.*1T=
NM_001371206.1:c.*1T=
NP_001358135.1:n.*1T=