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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_000017.11:g.41755738G= , CM000679.2:g.41755738G=
GRCh38
NC_000017.10:g.39911990G= , CM000679.1:g.39911990G=
GRCh37
NC_000017.9:g.37165516G=
NCBI36
NG_009090.2:g.35975C= , LRG_401:g.35975C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393931.8:c.*6C=
MANE Select
ENSP00000377508.3:n.*6C=
ENST00000310706.9:c.*6C=
ENSP00000311113.5:n.*6C=
ENST00000393930.5:c.*6C=
ENSP00000377507.1:n.*6C=
ENST00000393931.7:c.*6C=
ENSP00000377508.3:n.*6C=
NM_002230.2:c.*6C= , LRG_401t2:c.*6C=
NP_002221.1:n.*6C=
NM_021991.2:c.*6C= , LRG_401t1:c.*6C=
NP_068831.1:n.*6C=
XM_006721873.1:c.*6C=
XP_006721936.1:n.*6C=
XM_006721874.1:c.*6C=
XP_006721937.1:n.*6C=
XM_006721875.1:c.*6C=
XP_006721938.1:n.*6C=
XM_006721878.1:c.*6C=
XP_006721941.1:n.*6C=
XM_011524753.1:c.*6C=
XP_011523055.1:n.*6C=
XM_011524754.1:c.*6C=
XP_011523056.1:n.*6C=
XM_011524755.1:c.*6C=
XP_011523057.1:n.*6C=
XM_011524756.1:c.*6C=
XP_011523058.1:n.*6C=
XM_011524757.1:c.*6C=
XP_011523059.1:n.*6C=
XM_011524758.1:c.*6C=
XP_011523060.1:n.*6C=
NM_001352773.1:c.*6C=
NP_001339702.1:n.*6C=
NM_001352774.1:c.*6C=
NP_001339703.1:n.*6C=
NM_001352775.1:c.*6C=
NP_001339704.1:n.*6C=
NM_001352776.1:c.*6C=
NP_001339705.1:n.*6C=
NM_001352777.1:c.*6C=
NP_001339706.1:n.*6C=
NM_002230.3:c.*6C=
NP_002221.1:n.*6C=
NM_021991.3:c.*6C=
NP_068831.1:n.*6C=
XM_006721874.3:c.*6C=
XP_006721937.1:n.*6C=
XM_011524753.2:c.*6C=
XP_011523055.1:n.*6C=
XM_017024588.2:c.*6C=
XP_016880077.1:n.*6C=
XM_017024590.1:c.*6C=
XP_016880079.1:n.*6C=
NM_002230.4:c.*6C=
MANE Select
NP_002221.1:n.*6C=
NM_001352773.2:c.*6C=
NP_001339702.1:n.*6C=
NM_001352774.2:c.*6C=
NP_001339703.1:n.*6C=
NM_001352775.2:c.*6C=
NP_001339704.1:n.*6C=
NM_001352776.2:c.*6C=
NP_001339705.1:n.*6C=
NM_001352777.2:c.*6C=
NP_001339706.1:n.*6C=
NM_021991.4:c.*6C=
NP_068831.1:n.*6C=