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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_000015.10:g.50242244G>A , CM000677.2:g.50242244G>A
GRCh38
NC_000015.9:g.50534441G>A , CM000677.1:g.50534441G>A
GRCh37
NC_000015.8:g.48321733G>A
NCBI36
NG_027487.1:g.28722C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.*16C>T
MANE Select
ENSP00000267845.3:n.*16C>T
ENST00000267845.7:c.*16C>T
ENSP00000267845.3:n.*16C>T
ENST00000543581.5:c.*16C>T
ENSP00000440252.1:n.*16C>T
ENST00000559816.1:n.1749C>T
NM_001306146.1:c.*16C>T
NP_001293075.1:n.*16C>T
NM_002112.3:c.*16C>T
NP_002103.2:n.*16C>T
XM_011521479.1:c.*16C>T
XP_011519781.1:n.*16C>T
XM_011521480.1:c.*16C>T
XP_011519782.1:n.*16C>T
XM_017022094.1:c.*16C>T
XP_016877583.1:n.*16C>T
XM_017022095.1:c.*16C>T
XP_016877584.1:n.*16C>T
XM_017022096.1:c.*16C>T
XP_016877585.1:n.*16C>T
XM_017022097.1:c.*16C>T
XP_016877586.1:n.*16C>T
XM_017022098.1:c.*16C>T
XP_016877587.1:n.*16C>T
NM_002112.4:c.*16C>T
MANE Select
NP_002103.2:n.*16C>T
NM_001306146.2:c.*16C>T
NP_001293075.1:n.*16C>T