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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_000014.9:g.103137286A= , CM000676.2:g.103137286A=
GRCh38
NC_000014.8:g.103603623A= , CM000676.1:g.103603623A=
GRCh37
NC_000014.7:g.102673376A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333007.8:c.*1926A=
ENSP00000332326.1:n.*1926A=
ENST00000560869.6:c.*1926A=
MANE Select
ENSP00000452634.2:n.*1926A=
ENST00000333007.5:c.*1926A=
ENSP00000332326.1:n.*1926A=
ENST00000560869.5:c.*1926A=
ENSP00000452634.1:n.*1926A=
ENST00000561217.1:n.457A=
NM_006291.2:c.*1926A=
NP_006282.2:n.*1926A=
XM_006720243.2:c.*1283A=
XP_006720306.1:n.*1283A=
XM_011537112.1:c.*1283A=
XP_011535414.1:n.*1283A=
XM_011537113.1:c.*1283A=
XP_011535415.1:n.*1283A=
XM_011537114.1:c.*1926A=
XP_011535416.1:n.*1926A=
XM_006720243.3:c.*1283A=
XP_006720306.1:n.*1283A=
XM_011537112.2:c.*1283A=
XP_011535414.1:n.*1283A=
XM_011537113.2:c.*1283A=
XP_011535415.1:n.*1283A=
XM_011537114.2:c.*1926A=
XP_011535416.1:n.*1926A=
XM_017021616.1:c.*1283A=
XP_016877105.1:n.*1283A=
NM_006291.3:c.*1926A=
NP_006282.2:n.*1926A=
NM_001371220.1:c.*1283A=
NP_001358149.1:n.*1283A=
NM_001371221.1:c.*1283A=
NP_001358150.1:n.*1283A=
NM_006291.4:c.*1926A=
MANE Select
NP_006282.2:n.*1926A=