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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_000012.12:g.53307488C= , CM000674.2:g.53307488C=
GRCh38
NC_000012.11:g.53701272C= , CM000674.1:g.53701272C=
GRCh37
NC_000012.10:g.51987539C=
NCBI36
NG_016775.1:g.19141G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000209873.9:c.*1G=
MANE Select
ENSP00000209873.4:n.*1G=
ENST00000547757.2:c.*560G=
ENSP00000448020.2:n.*560G=
ENST00000548931.6:c.1077G=
ENSP00000457518.1:n.1077G=
ENST00000549450.6:n.1576G=
ENST00000209873.8:c.*1G=
ENSP00000209873.4:n.*1G=
ENST00000394384.7:c.*1G=
ENSP00000377908.3:n.*1G=
ENST00000550286.5:c.*1G=
ENSP00000446885.1:n.*1G=
ENST00000552876.5:n.1985G=
NM_001173466.1:c.*1G=
NP_001166937.1:n.*1G=
NM_015665.5:c.*1G=
NP_056480.1:n.*1G=
XM_006719617.2:c.*1G=
XP_006719680.1:n.*1G=
XM_011538777.1:c.*1G=
XP_011537079.1:n.*1G=
XM_011538778.1:c.*1G=
XP_011537080.1:n.*1G=
XM_011538779.1:c.*1G=
XP_011537081.1:n.*1G=
XM_011538780.1:c.*1G=
XP_011537082.1:n.*1G=
XM_011538781.1:c.*1G=
XP_011537083.1:n.*1G=
XM_011538778.2:c.*1G=
XP_011537080.1:n.*1G=
XM_011538780.2:c.*1G=
XP_011537082.1:n.*1G=
XR_001748875.2:n.1699G=
NM_015665.6:c.*1G=
MANE Select
NP_056480.1:n.*1G=
NM_001173466.2:c.*1G=
NP_001166937.1:n.*1G=