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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.170553708A= , CM000663.2:g.170553708A=
GRCh38
NC_000001.10:g.170522849A= , CM000663.1:g.170522849A=
GRCh37
NC_000001.9:g.168789473A=
NCBI36
NG_012237.1:g.26587A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000689173.1:c.*2354A=
ENSP00000509341.1:n.*2354A=
ENST00000367763.8:c.*1246A=
MANE Select
ENSP00000356737.4:n.*1246A=
NM_152281.2:c.*1246A=
NP_689494.2:n.*1246A=
NR_027397.1:n.2462A=
XM_006711628.2:c.*1246A=
XP_006711691.1:n.*1246A=
XM_006711629.2:c.*1246A=
XP_006711692.1:n.*1246A=
XM_011510149.1:c.*1246A=
XP_011508451.1:n.*1246A=
XM_011510150.1:c.*1246A=
XP_011508452.1:n.*1246A=
XM_011510151.1:c.*1246A=
XP_011508453.1:n.*1246A=
NM_001320252.1:c.*1246A=
NP_001307181.1:n.*1246A=
XM_006711628.4:c.*1246A=
XP_006711691.1:n.*1246A=
XM_011510149.2:c.*1246A=
XP_011508451.1:n.*1246A=
XM_011510150.3:c.*1246A=
XP_011508452.1:n.*1246A=
XM_017002807.1:c.*1246A=
XP_016858296.1:n.*1246A=
XM_024450864.1:c.*1246A=
XP_024306632.1:n.*1246A=
NM_001320252.2:c.*1246A=
NP_001307181.1:n.*1246A=
NM_152281.3:c.*1246A=
MANE Select
NP_689494.3:n.*1246A=
NR_027397.2:n.2418A=