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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_000014.9:g.76501317T= , CM000676.2:g.76501317T=
GRCh38
NC_000014.8:g.76967660T= , CM000676.1:g.76967660T=
GRCh37
NC_000014.7:g.76037413T=
NCBI36
NG_012278.1:g.134971T=
NG_012278.2:g.134971T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380887.7:c.*596T=
ENSP00000370270.2:n.*596T=
ENST00000644823.1:c.*2859T=
MANE Select
ENSP00000493776.1:n.*2859T=
ENST00000380887.6:c.*596T=
ENSP00000370270.2:n.*596T=
ENST00000509242.5:c.*596T=
ENSP00000422488.1:n.*596T=
ENST00000611036.1:n.1672T=
NM_004452.3:c.*596T=
NP_004443.3:n.*596T=
XM_011536547.1:c.*1092T=
XP_011534849.1:n.*1092T=
XM_011536548.1:c.*1092T=
XP_011534850.1:n.*1092T=
XM_011536549.1:c.*1092T=
XP_011534851.1:n.*1092T=
XM_011536550.1:c.*1092T=
XP_011534852.1:n.*1092T=
XM_011536551.1:c.*1092T=
XP_011534853.1:n.*1092T=
XM_011536552.1:c.*1092T=
XP_011534854.1:n.*1092T=
XM_011536553.1:c.*2355T=
XP_011534855.1:n.*2355T=
XM_011536554.1:c.*596T=
XP_011534856.1:n.*596T=
XM_011536555.1:c.*1092T=
XP_011534857.1:n.*1092T=
XR_943401.1:n.2620T=
XR_944039.1:n.144+840A=
XM_011536547.2:c.*1092T=
XP_011534849.1:n.*1092T=
XM_011536550.2:c.*1092T=
XP_011534852.1:n.*1092T=
XM_011536553.2:c.*2355T=
XP_011534855.1:n.*2355T=
XM_011536554.2:c.*596T=
XP_011534856.1:n.*596T=
XM_017021085.1:c.*1092T=
XP_016876574.1:n.*1092T=
XM_024449508.1:c.*1435T=
XP_024305276.1:n.*1435T=
XM_024449509.1:c.*596T=
XP_024305277.1:n.*596T=
XR_943401.2:n.2843T=
NM_001379180.1:c.*2859T=
MANE Select
NP_001366109.1:n.*2859T=
NM_004452.4:c.*596T=
NP_004443.3:n.*596T=