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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_000008.11:g.93923674T= , CM000670.2:g.93923674T=
GRCh38
NC_000008.10:g.94935902T= , CM000670.1:g.94935902T=
GRCh37
NC_000008.9:g.95005078T=
NCBI36
NG_012233.1:g.11741T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000297598.5:c.*1T=
MANE Select
ENSP00000297598.4:n.*1T=
ENST00000297598.4:c.*1T=
ENSP00000297598.4:n.*1T=
ENST00000396200.3:c.*1T=
ENSP00000379503.3:n.*1T=
ENST00000517764.1:c.*1T=
ENSP00000430380.1:n.*1T=
ENST00000520728.5:c.*1T=
ENSP00000428317.1:n.*1T=
NM_001161779.1:c.*1T=
NP_001155251.1:n.*1T=
NM_001161780.1:c.*1T=
NP_001155252.1:n.*1T=
NM_001161781.1:c.*1T=
NP_001155253.1:n.*1T=
NM_018444.3:c.*1T=
NP_060914.2:n.*1T=
XM_011517135.1:c.*1T=
XP_011515437.1:n.*1T=
XM_011517136.1:c.*1T=
XP_011515438.1:n.*1T=
XM_011517137.1:c.*1T=
XP_011515439.1:n.*1T=
XM_011517135.2:c.*1T=
XP_011515437.1:n.*1T=
XM_011517136.2:c.*1T=
XP_011515438.1:n.*1T=
XM_017013588.1:c.*1T=
XP_016869077.1:n.*1T=
NM_018444.4:c.*1T=
MANE Select
NP_060914.2:n.*1T=
NM_001161780.2:c.*1T=
NP_001155252.1:n.*1T=
NM_001161781.2:c.*1T=
NP_001155253.1:n.*1T=
NM_001161779.2:c.*1T=
NP_001155251.1:n.*1T=