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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_000004.12:g.20619278C>A , CM000666.2:g.20619278C>A
GRCh38
NC_000004.11:g.20620901C>A , CM000666.1:g.20620901C>A
GRCh37
NC_000004.10:g.20229999C>A
NCBI36
NG_047105.1:g.372354C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000504154.6:c.*269C>A
MANE Select
ENSP00000422591.1:n.*269C>A
ENST00000273739.9:c.*269C>A
ENSP00000273739.5:n.*269C>A
ENST00000504154.5:c.*269C>A
ENSP00000422591.1:n.*269C>A
ENST00000512993.1:c.237-1126C>A
ENST00000622093.4:c.*269C>A
ENSP00000482129.1:n.*269C>A
NM_001289135.1:c.*269C>A
NP_001276064.1:n.*269C>A
NM_001289135.2:c.*269C>A
NP_001276064.1:n.*269C>A
NM_001289136.1:c.*269C>A
NP_001276065.1:n.*269C>A
NM_001289136.2:c.*269C>A
NP_001276065.1:n.*269C>A
NM_004787.2:c.*269C>A
NP_004778.1:n.*269C>A
NM_004787.3:c.*269C>A
NP_004778.1:n.*269C>A
XM_005248211.2:c.*269C>A
XP_005248268.1:n.*269C>A
XM_006713986.2:c.*269C>A
XP_006714049.1:n.*269C>A
XM_011513909.1:c.*269C>A
XP_011512211.1:n.*269C>A
XM_011513910.1:c.*269C>A
XP_011512212.1:n.*269C>A
XM_005248211.3:c.*269C>A
XP_005248268.1:n.*269C>A
XM_006713986.3:c.*269C>A
XP_006714049.1:n.*269C>A
XM_011513909.2:c.*269C>A
XP_011512211.1:n.*269C>A
XM_011513910.2:c.*269C>A
XP_011512212.2:n.*269C>A
XM_017008845.1:c.*269C>A
XP_016864334.1:n.*269C>A
NM_004787.4:c.*269C>A
MANE Select
NP_004778.1:n.*269C>A
NM_001289135.3:c.*269C>A
NP_001276064.1:n.*269C>A
NM_001289136.3:c.*269C>A
NP_001276065.1:n.*269C>A