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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_000003.12:g.14148600G>T , CM000665.2:g.14148600G>T
GRCh38
NC_000003.11:g.14190100G>T , CM000665.1:g.14190100G>T
GRCh37
NC_000003.10:g.14165101G>T
NCBI36
NG_011763.1:g.35073C>A , LRG_472:g.35073C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000285021.12:c.2382C>A
MANE Select
ENSP00000285021.8:p.Ile794=
ENST00000285021.11:c.2382C>A
ENSP00000285021.7:p.Ile794=
ENST00000427795.2:n.247C>A
ENST00000476581.6:c.*1835C>A
ENSP00000424548.1:n.*1835C>A
NM_004628.4:c.2382C>A , LRG_472t1:c.2382C>A
NP_004619.3:p.Ile794=
NR_027299.1:n.2362C>A
XM_011534092.1:c.2382C>A
XP_011532394.1:p.Ile794=
NM_001354726.1:c.1803C>A
NP_001341655.1:p.Ile601=
NM_001354727.1:c.2376C>A
NP_001341656.1:p.Ile792=
NM_001354729.1:c.2364C>A
NP_001341658.1:p.Ile788=
NM_001354730.1:c.2136C>A
NP_001341659.1:p.Ile712=
NR_148950.1:n.2325C>A
NR_148951.1:n.2201C>A
XR_001740256.2:n.2415C>A
XR_002959580.1:n.2415C>A
XR_002959581.1:n.4032C>A
NM_001354727.2:c.2376C>A
NP_001341656.1:p.Ile792=
NM_004628.5:c.2382C>A
MANE Select
NP_004619.3:p.Ile794=
NR_148950.2:n.2254C>A
NR_148951.2:n.2130C>A
NM_001354726.2:c.1803C>A
NP_001341655.1:p.Ile601=
NM_001354729.2:c.2364C>A
NP_001341658.1:p.Ile788=
NM_001354730.2:c.2136C>A
NP_001341659.1:p.Ile712=