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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_000017.11:g.63497990C>A , CM000679.2:g.63497990C>A
GRCh38
NC_000017.10:g.61575351C>A , CM000679.1:g.61575351C>A
GRCh37
NC_000017.9:g.58929083C>A
NCBI36
NG_011648.1:g.25918C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000290866.10:c.*624C>A
MANE Select
ENSP00000290866.4:n.*624C>A
ENST00000290866.9:c.*624C>A
ENSP00000290866.4:n.*624C>A
ENST00000428043.5:c.*967C>A
ENSP00000397593.2:n.*967C>A
ENST00000577647.2:c.1969+1005C>A
ENSP00000464149.1:n.1969+1005C>A
NM_000789.3:c.*624C>A
NP_000780.1:n.*624C>A
NM_001178057.1:c.*624C>A
NP_001171528.1:n.*624C>A
NM_152830.2:c.*624C>A
NP_690043.1:n.*624C>A
XM_005257110.1:c.*624C>A
XP_005257167.1:n.*624C>A
XM_006721737.2:c.*624C>A
XP_006721800.2:n.*624C>A
NM_000789.4:c.*624C>A
MANE Select
NP_000780.1:n.*624C>A
NM_001178057.2:c.*624C>A
NP_001171528.1:n.*624C>A
NM_152830.3:c.*624C>A
NP_690043.1:n.*624C>A
NM_001382700.1:c.*624C>A
NP_001369629.1:n.*624C>A
NM_001382701.1:c.*624C>A
NP_001369630.1:n.*624C>A
NM_001382702.1:c.*624C>A
NP_001369631.1:n.*624C>A
NR_168483.1:n.2923C>A