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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_000017.11:g.42787514C>T , CM000679.2:g.42787514C>T
GRCh38
NC_000017.10:g.40939532C>T , CM000679.1:g.40939532C>T
GRCh37
NC_000017.9:g.38193058C>T
NCBI36
NG_016227.1:g.11884C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000246914.10:c.1713C>T
MANE Select
ENSP00000246914.4:p.Phe571=
ENST00000246914.9:c.1713C>T
ENSP00000246914.4:p.Phe571=
ENST00000587705.5:n.393C>T
ENST00000591448.5:c.*214C>T
ENSP00000467088.1:n.*214C>T
ENST00000592072.1:n.393C>T
NM_032387.4:c.1713C>T
NP_115763.2:p.Phe571=
XM_005257595.3:c.1713C>T
XP_005257652.1:p.Phe571=
XM_005257596.2:c.1713C>T
XP_005257653.1:p.Phe571=
XM_005257597.3:c.1713C>T
XP_005257654.1:p.Phe571=
XM_006722020.2:c.1713C>T
XP_006722083.1:p.Phe571=
XM_006722021.1:c.705C>T
XP_006722084.1:p.Phe235=
XM_006722022.1:c.705C>T
XP_006722085.1:p.Phe235=
XM_011525132.1:c.1713C>T
XP_011523434.1:p.Phe571=
XM_011525133.1:c.1713C>T
XP_011523435.1:p.Phe571=
XM_011525134.1:c.1713C>T
XP_011523436.1:p.Phe571=
XM_011525135.1:c.1713C>T
XP_011523437.1:p.Phe571=
NM_001321299.1:c.705C>T
NP_001308228.1:p.Phe235=
XM_017024962.1:c.1713C>T
XP_016880451.1:p.Phe571=
XM_017024966.1:c.705C>T
XP_016880455.1:p.Phe235=
NM_032387.5:c.1713C>T
MANE Select
NP_115763.2:p.Phe571=
NM_001321299.2:c.705C>T
NP_001308228.1:p.Phe235=