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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_000012.12:g.110340955C>A , CM000674.2:g.110340955C>A
GRCh38
NC_000012.11:g.110778760C>A , CM000674.1:g.110778760C>A
GRCh37
NC_000012.10:g.109263143C>A
NCBI36
NG_007097.2:g.64329C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539276.7:c.2058C>A
MANE Select
ENSP00000440045.2:p.Ile686=
ENST00000308664.10:c.2058C>A
ENSP00000311186.6:p.Ile686=
ENST00000377685.9:c.*1898C>A
ENSP00000366913.4:n.*1898C>A
ENST00000539276.6:c.2058C>A
ENSP00000440045.2:p.Ile686=
ENST00000548169.2:c.1729C>A
NM_001681.3:c.2058C>A
NP_001672.1:p.Ile686=
NM_170665.3:c.2058C>A
NP_733765.1:p.Ile686=
XM_005253888.1:c.2058C>A
XP_005253945.1:p.Ile686=
XM_011538402.1:c.2058C>A
XP_011536704.1:p.Ile686=
XM_011538403.1:c.2058C>A
XP_011536705.1:p.Ile686=
XR_243009.1:n.2064C>A
XM_005253888.3:c.2058C>A
XP_005253945.1:p.Ile686=
XM_011538402.3:c.2058C>A
XP_011536704.1:p.Ile686=
XR_002957329.1:n.2064C>A
XR_243009.3:n.2064C>A
NM_170665.4:c.2058C>A
MANE Select
NP_733765.1:p.Ile686=
NM_001681.4:c.2058C>A
NP_001672.1:p.Ile686=