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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_000004.12:g.20619238G>T , CM000666.2:g.20619238G>T
GRCh38
NC_000004.11:g.20620861G>T , CM000666.1:g.20620861G>T
GRCh37
NC_000004.10:g.20229959G>T
NCBI36
NG_047105.1:g.372314G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000504154.6:c.*229G>T
MANE Select
ENSP00000422591.1:n.*229G>T
ENST00000273739.9:c.*229G>T
ENSP00000273739.5:n.*229G>T
ENST00000504154.5:c.*229G>T
ENSP00000422591.1:n.*229G>T
ENST00000512993.1:c.237-1166G>T
ENST00000622093.4:c.*229G>T
ENSP00000482129.1:n.*229G>T
NM_001289135.1:c.*229G>T
NP_001276064.1:n.*229G>T
NM_001289135.2:c.*229G>T
NP_001276064.1:n.*229G>T
NM_001289136.1:c.*229G>T
NP_001276065.1:n.*229G>T
NM_001289136.2:c.*229G>T
NP_001276065.1:n.*229G>T
NM_004787.2:c.*229G>T
NP_004778.1:n.*229G>T
NM_004787.3:c.*229G>T
NP_004778.1:n.*229G>T
XM_005248211.2:c.*229G>T
XP_005248268.1:n.*229G>T
XM_006713986.2:c.*229G>T
XP_006714049.1:n.*229G>T
XM_011513909.1:c.*229G>T
XP_011512211.1:n.*229G>T
XM_011513910.1:c.*229G>T
XP_011512212.1:n.*229G>T
XM_005248211.3:c.*229G>T
XP_005248268.1:n.*229G>T
XM_006713986.3:c.*229G>T
XP_006714049.1:n.*229G>T
XM_011513909.2:c.*229G>T
XP_011512211.1:n.*229G>T
XM_011513910.2:c.*229G>T
XP_011512212.2:n.*229G>T
XM_017008845.1:c.*229G>T
XP_016864334.1:n.*229G>T
NM_004787.4:c.*229G>T
MANE Select
NP_004778.1:n.*229G>T
NM_001289135.3:c.*229G>T
NP_001276064.1:n.*229G>T
NM_001289136.3:c.*229G>T
NP_001276065.1:n.*229G>T