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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_000004.12:g.73420306T= , CM000666.2:g.73420306T=
GRCh38
NC_000004.11:g.74286023T= , CM000666.1:g.74286023T=
GRCh37
NC_000004.10:g.74504887T=
NCBI36
NG_009291.1:g.21052T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295897.9:c.*8T=
MANE Select
ENSP00000295897.4:n.*8T=
ENST00000295897.8:c.*8T=
ENSP00000295897.4:n.*8T=
ENST00000401494.7:c.*8T=
ENSP00000384695.3:n.*8T=
ENST00000415165.6:c.*8T=
ENSP00000401820.2:n.*8T=
ENST00000476441.6:c.*1117T=
ENSP00000423727.1:n.*1117T=
ENST00000495173.1:n.146T=
ENST00000503124.5:c.*8T=
ENSP00000421027.1:n.*8T=
ENST00000505649.5:n.1385T=
ENST00000508932.5:n.228T=
ENST00000509063.5:c.1785+667T=
ENSP00000422784.1:n.1785+667T=
ENST00000511370.1:c.1371T=
ENST00000621085.4:c.*8T=
ENSP00000483421.1:n.*8T=
ENST00000621628.4:c.*8T=
ENSP00000480485.1:n.*8T=
NM_000477.5:c.*8T=
NP_000468.1:n.*8T=
NM_000477.6:c.*8T=
NP_000468.1:n.*8T=
NM_000477.7:c.*8T=
MANE Select
NP_000468.1:n.*8T=