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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.154465229G= , CM000663.2:g.154465229G=
GRCh38
NC_000001.10:g.154437705G= , CM000663.1:g.154437705G=
GRCh37
NC_000001.9:g.152704329G=
NCBI36
NG_012087.1:g.65037G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000368485.8:c.1256G=
MANE Select
ENSP00000357470.3:p.Arg419=
ENST00000344086.8:c.*64G=
ENSP00000340589.4:n.*64G=
ENST00000368485.7:c.1256G=
ENSP00000357470.3:p.Arg419=
ENST00000502679.1:n.569G=
ENST00000507256.1:n.454G=
NM_000565.3:c.1256G=
NP_000556.1:p.Arg419=
NM_181359.2:c.*64G=
NP_852004.1:n.*64G=
XM_005245139.1:c.1020G=
XP_005245196.1:p.Ser340=
XM_005245140.1:c.*97G=
XP_005245197.1:n.*97G=
XM_006711298.1:c.1304G=
XP_006711361.1:p.Arg435=
XM_006711299.2:c.*64G=
XP_006711362.1:n.*64G=
XM_005245139.2:c.1020G=
XP_005245196.1:p.Ser340=
XM_005245140.3:c.*97G=
XP_005245197.1:n.*97G=
XM_006711298.2:c.1304G=
XP_006711361.1:p.Arg435=
XM_006711299.4:c.*64G=
XP_006711362.1:n.*64G=
XM_017001199.2:c.1403G=
XP_016856688.1:p.Arg468=
XM_017001200.2:c.1355G=
XP_016856689.1:p.Arg452=
XM_017001201.2:c.*97G=
XP_016856690.1:n.*97G=
NM_000565.4:c.1256G=
MANE Select
NP_000556.1:p.Arg419=
NM_181359.3:c.*64G=
NP_852004.1:n.*64G=
NM_001382769.1:c.1355G=
NP_001369698.1:p.Arg452=
NM_001382770.1:c.1349G=
NP_001369699.1:p.Arg450=
NM_001382771.1:c.1304G=
NP_001369700.1:p.Arg435=
NM_001382772.1:c.1250G=
NP_001369701.1:p.Arg417=
NM_001382773.1:c.*64G=
NP_001369702.1:n.*64G=
NM_001382774.1:c.896G=
NP_001369703.1:p.Arg299=