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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_000003.12:g.148742123G= , CM000665.2:g.148742123G=
GRCh38
NC_000003.11:g.148459910G= , CM000665.1:g.148459910G=
GRCh37
NC_000003.10:g.149942600G=
NCBI36
NG_008468.1:g.49253G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000349243.8:c.*8G=
MANE Select
ENSP00000273430.3:n.*8G=
ENST00000402260.2:c.*8G=
ENSP00000385641.3:n.*8G=
ENST00000418473.7:c.*8G=
ENSP00000398832.4:n.*8G=
ENST00000349243.7:c.*8G=
ENSP00000273430.3:n.*8G=
ENST00000402260.1:c.*8G=
ENSP00000385641.2:n.*8G=
ENST00000404754.2:c.*8G=
ENSP00000385612.2:n.*8G=
ENST00000418473.6:c.1193G=
ENSP00000398832.3:n.1193G=
ENST00000461609.1:c.*8G=
ENSP00000418851.1:n.*8G=
ENST00000474935.5:c.*8G=
ENSP00000418084.1:n.*8G=
ENST00000475347.5:c.*8G=
ENSP00000419783.1:n.*8G=
ENST00000497524.5:c.*8G=
ENSP00000419422.1:n.*8G=
NM_000685.4:c.*8G=
NP_000676.1:n.*8G=
NM_004835.4:c.*8G=
NP_004826.5:n.*8G=
NM_009585.3:c.*8G=
NP_033611.1:n.*8G=
NM_031850.3:c.*8G=
NP_114038.4:n.*8G=
NM_032049.3:c.*8G=
NP_114438.2:n.*8G=
NM_000685.5:c.*8G=
MANE Select
NP_000676.1:n.*8G=
NM_001382736.1:c.*8G=
NP_001369665.1:n.*8G=
NM_001382737.1:c.*8G=
NP_001369666.1:n.*8G=
NM_004835.5:c.*8G=
NP_004826.6:n.*8G=
NM_009585.4:c.*8G=
NP_033611.1:n.*8G=
NM_031850.4:c.*8G=
NP_114038.5:n.*8G=
NM_032049.4:c.*8G=
NP_114438.3:n.*8G=