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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.63497917A>T , CM000679.2:g.63497917A>T
GRCh38
NC_000017.10:g.61575278A>T , CM000679.1:g.61575278A>T
GRCh37
NC_000017.9:g.58929010A>T
NCBI36
NG_011648.1:g.25845A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000290866.10:c.*551A>T
MANE Select
ENSP00000290866.4:n.*551A>T
ENST00000290866.9:c.*551A>T
ENSP00000290866.4:n.*551A>T
ENST00000428043.5:c.*894A>T
ENSP00000397593.2:n.*894A>T
ENST00000577647.2:c.1969+932A>T
ENSP00000464149.1:n.1969+932A>T
NM_000789.3:c.*551A>T
NP_000780.1:n.*551A>T
NM_001178057.1:c.*551A>T
NP_001171528.1:n.*551A>T
NM_152830.2:c.*551A>T
NP_690043.1:n.*551A>T
XM_005257110.1:c.*551A>T
XP_005257167.1:n.*551A>T
XM_006721737.2:c.*551A>T
XP_006721800.2:n.*551A>T
NM_000789.4:c.*551A>T
MANE Select
NP_000780.1:n.*551A>T
NM_001178057.2:c.*551A>T
NP_001171528.1:n.*551A>T
NM_152830.3:c.*551A>T
NP_690043.1:n.*551A>T
NM_001382700.1:c.*551A>T
NP_001369629.1:n.*551A>T
NM_001382701.1:c.*551A>T
NP_001369630.1:n.*551A>T
NM_001382702.1:c.*551A>T
NP_001369631.1:n.*551A>T
NR_168483.1:n.2850A>T