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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.89931055G= , CM000668.2:g.89931055G=
GRCh38
NC_000006.11:g.90640774G= , CM000668.1:g.90640774G=
GRCh37
NC_000006.10:g.90697495G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000257749.9:c.*1353C=
MANE Select
ENSP00000257749.4:n.*1353C=
ENST00000257749.8:c.*1353C=
ENSP00000257749.4:n.*1353C=
ENST00000537989.5:c.*1353C=
ENSP00000437473.1:n.*1353C=
NM_001170794.1:c.*1353C=
NP_001164265.1:n.*1353C=
NM_021813.3:c.*1353C=
NP_068585.1:n.*1353C=
XM_005248758.3:c.*1353C=
XP_005248815.1:n.*1353C=
XM_005248759.3:c.*1353C=
XP_005248816.1:n.*1353C=
XM_011536037.1:c.*1353C=
XP_011534339.1:n.*1353C=
XM_011536038.1:c.*1353C=
XP_011534340.1:n.*1353C=
XM_011536039.1:c.*1353C=
XP_011534341.1:n.*1353C=
XM_011536040.1:c.*1353C=
XP_011534342.1:n.*1353C=
XM_011536041.1:c.*1353C=
XP_011534343.1:n.*1353C=
XM_005248758.5:c.*1353C=
XP_005248815.1:n.*1353C=
XM_005248759.5:c.*1353C=
XP_005248816.1:n.*1353C=
XM_017011166.2:c.*1353C=
XP_016866655.1:n.*1353C=
XM_024446510.1:c.*1353C=
XP_024302278.1:n.*1353C=
XM_024446511.1:c.*1353C=
XP_024302279.1:n.*1353C=
NM_021813.4:c.*1353C=
MANE Select
NP_068585.1:n.*1353C=
NM_001170794.2:c.*1353C=
NP_001164265.1:n.*1353C=