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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_000005.10:g.38481546G= , CM000667.2:g.38481546G=
GRCh38
NC_000005.9:g.38481648G= , CM000667.1:g.38481648G=
GRCh37
NC_000005.8:g.38517405G=
NCBI36
NG_011817.1:g.118860C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453190.7:c.*49C=
MANE Select
ENSP00000398368.2:n.*49C=
ENST00000263409.8:c.*49C=
ENSP00000263409.4:n.*49C=
ENST00000453190.6:c.*49C=
ENSP00000398368.2:n.*49C=
NM_001127671.1:c.*49C=
NP_001121143.1:n.*49C=
NM_002310.5:c.*49C=
NP_002301.1:n.*49C=
XM_011514040.1:c.*49C=
XP_011512342.1:n.*49C=
XM_011514041.1:c.*49C=
XP_011512343.1:n.*49C=
XM_011514042.1:c.*49C=
XP_011512344.1:n.*49C=
NM_001364297.1:c.*49C=
NP_001351226.1:n.*49C=
NM_001364298.1:c.*49C=
NP_001351227.1:n.*49C=
XM_011514042.3:c.*49C=
XP_011512344.1:n.*49C=
XM_017009462.1:c.*49C=
XP_016864951.1:n.*49C=
XM_017009463.1:c.*49C=
XP_016864952.1:n.*49C=
NM_001127671.2:c.*49C=
MANE Select
NP_001121143.1:n.*49C=
NM_002310.6:c.*49C=
NP_002301.1:n.*49C=
NM_001364297.2:c.*49C=
NP_001351226.1:n.*49C=
NM_001364298.2:c.*49C=
NP_001351227.1:n.*49C=