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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_000001.11:g.225488919A= , CM000663.2:g.225488919A=
GRCh38
NC_000001.10:g.225676621A= , CM000663.1:g.225676621A=
GRCh37
NC_000001.9:g.223743244A=
NCBI36
NG_051578.1:g.176127T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696609.1:c.*8856T=
ENSP00000512753.1:n.*8856T=
ENST00000366843.7:c.*8856T=
MANE Select
ENSP00000355808.2:n.*8856T=
ENST00000366844.7:c.*8856T=
ENSP00000355809.2:n.*8856T=
NM_001008493.1:c.*8856T=
NP_001008493.1:n.*8856T=
NM_018212.4:c.*8856T=
NP_060682.2:n.*8856T=
NM_001008493.2:c.*8856T=
NP_001008493.1:n.*8856T=
NM_018212.5:c.*8856T=
NP_060682.2:n.*8856T=
XM_017001751.1:c.*8856T=
XP_016857240.1:n.*8856T=
XM_024448309.1:c.*8856T=
XP_024304077.1:n.*8856T=
XM_024448310.1:c.*8856T=
XP_024304078.1:n.*8856T=
XM_024448311.1:c.*8856T=
XP_024304079.1:n.*8856T=
XM_024448313.1:c.*8856T=
XP_024304081.1:n.*8856T=
XM_024448314.1:c.*8856T=
XP_024304082.1:n.*8856T=
XM_024448315.1:c.*8856T=
XP_024304083.1:n.*8856T=
XM_024448316.1:c.*8856T=
XP_024304084.1:n.*8856T=
XM_024448317.1:c.*8856T=
XP_024304085.1:n.*8856T=
NM_001008493.3:c.*8856T=
NP_001008493.1:n.*8856T=
NM_001377481.1:c.*8856T=
NP_001364410.1:n.*8856T=
NM_001377482.1:c.*8856T=
NP_001364411.1:n.*8856T=
NM_001377483.1:c.*8856T=
NP_001364412.1:n.*8856T=
NM_018212.6:c.*8856T=
MANE Select
NP_060682.2:n.*8856T=