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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.69171855A>G , CM000672.2:g.69171855A>G
GRCh38
NC_000010.10:g.70931611A>G , CM000672.1:g.70931611A>G
GRCh37
NC_000010.9:g.70601617A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000263559.11:c.*586A>G
MANE Select
ENSP00000263559.6:n.*586A>G
ENST00000263559.10:c.*586A>G
ENSP00000263559.6:n.*586A>G
ENST00000373382.5:c.*586A>G
ENSP00000362480.1:n.*586A>G
ENST00000395098.5:c.*671A>G
ENSP00000378532.1:n.*671A>G
NM_001035260.1:c.*671A>G
NP_001030337.1:n.*671A>G
NM_004896.3:c.*586A>G
NP_004887.2:n.*586A>G
XM_011540378.1:c.*586A>G
XP_011538680.1:n.*586A>G
NM_001035260.2:c.*671A>G
NP_001030337.1:n.*671A>G
NM_001318944.1:c.*586A>G
NP_001305873.1:n.*586A>G
NM_001318945.1:c.*586A>G
NP_001305874.1:n.*586A>G
NM_001318946.1:c.*586A>G
NP_001305875.1:n.*586A>G
NM_004896.4:c.*586A>G
NP_004887.2:n.*586A>G
NM_004896.5:c.*586A>G
MANE Select
NP_004887.2:n.*586A>G
NM_001318944.2:c.*586A>G
NP_001305873.1:n.*586A>G
NM_001318945.2:c.*586A>G
NP_001305874.1:n.*586A>G
NM_001318946.2:c.*586A>G
NP_001305875.1:n.*586A>G
NM_001035260.3:c.*671A>G
NP_001030337.1:n.*671A>G