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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.64350421T= , CM000679.2:g.64350421T=
GRCh38
NC_000017.9:g.59781526T=
NCBI36
NG_047009.1:g.68381A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000563924.6:c.2003A=
MANE Select
ENSP00000457421.1:p.Asp668=
ENST00000563924.5:c.2003A=
ENSP00000457421.1:p.Asp668=
NM_000442.4:c.2003A=
NP_000433.4:p.Asp668=
XM_005276880.1:c.2003A=
XP_005276937.1:p.Asp668=
XM_005276881.1:c.2003A=
XP_005276938.1:p.Asp668=
XM_005276882.1:c.2003A=
XP_005276939.1:p.Asp668=
XM_005276883.1:c.2003A=
XP_005276940.1:p.Asp668=
XM_011524889.1:c.2003A=
XP_011523191.1:p.Asp668=
XM_011524890.1:c.2003A=
XP_011523192.1:p.Asp668=
XM_005276883.2:c.2003A=
XP_005276940.1:p.Asp668=
XM_011524889.2:c.2003A=
XP_011523191.1:p.Asp668=
XM_017024738.1:c.2003A=
XP_016880227.1:p.Asp668=
XM_017024739.1:c.1990+1969A=
XP_016880228.1:n.1990+1969A=
XM_017024740.1:c.2003A=
XP_016880229.1:p.Asp668=
XM_017024741.1:c.1990+1969A=
XP_016880230.1:n.1990+1969A=
NM_000442.5:c.2003A=
MANE Select
NP_000433.4:p.Asp668=