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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_000010.11:g.101553652T>C , CM000672.2:g.101553652T>C
GRCh38
NC_000010.10:g.103313409T>C , CM000672.1:g.103313409T>C
GRCh37
NC_000010.9:g.103303399T>C
NCBI36
NG_009234.1:g.204585T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000370187.8:c.*529T>C
MANE Select
ENSP00000359206.3:n.*529T>C
ENST00000370187.7:c.*529T>C
ENSP00000359206.3:n.*529T>C
ENST00000393441.8:c.*529T>C
ENSP00000377088.5:n.*529T>C
ENST00000408038.6:c.*529T>C
ENSP00000385339.2:n.*529T>C
NM_001256856.1:c.*529T>C
NP_001243785.1:n.*529T>C
NM_003939.4:c.*529T>C
NP_003930.1:n.*529T>C
NM_033637.3:c.*529T>C
NP_378663.1:n.*529T>C
XM_005270264.2:c.*529T>C
XP_005270321.1:n.*529T>C
XM_006718054.2:c.*529T>C
XP_006718117.1:n.*529T>C
XM_011540320.1:c.*529T>C
XP_011538622.1:n.*529T>C
XM_011540320.2:c.*529T>C
XP_011538622.1:n.*529T>C
XM_017016870.1:c.*529T>C
XP_016872359.1:n.*529T>C
XM_017016871.1:c.*529T>C
XP_016872360.1:n.*529T>C
XM_017016872.1:c.*529T>C
XP_016872361.1:n.*529T>C
XM_017016873.2:c.*529T>C
XP_016872362.1:n.*529T>C
XM_017016874.1:c.*529T>C
XP_016872363.1:n.*529T>C
XM_024448246.1:c.*529T>C
XP_024304014.1:n.*529T>C
XM_024448247.1:c.*529T>C
XP_024304015.1:n.*529T>C
XR_001747256.1:n.2698T>C
NM_033637.4:c.*529T>C
MANE Select
NP_378663.1:n.*529T>C
NM_003939.5:c.*529T>C
NP_003930.1:n.*529T>C
NM_001256856.2:c.*529T>C
NP_001243785.1:n.*529T>C