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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_000015.10:g.50490469T>A , CM000677.2:g.50490469T>A
GRCh38
NC_000015.9:g.50782666T>A , CM000677.1:g.50782666T>A
GRCh37
NC_000015.8:g.48569958T>A
NCBI36
NG_047101.1:g.71093T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307179.9:c.2178T>A
MANE Select
ENSP00000302239.4:p.Ile726=
ENST00000307179.8:c.2178T>A
ENSP00000302239.4:p.Ile726=
ENST00000396444.7:c.2178T>A
ENSP00000379721.3:p.Ile726=
ENST00000425032.7:c.1860T>A
ENSP00000412682.3:p.Ile620=
NM_001128610.2:c.2178T>A
NP_001122082.1:p.Ile726=
NM_001283049.1:c.1860T>A
NP_001269978.1:p.Ile620=
NM_005154.4:c.2178T>A
NP_005145.3:p.Ile726=
XM_006720761.2:c.2178T>A
XP_006720824.1:p.Ile726=
XM_006720762.2:c.2091T>A
XP_006720825.1:p.Ile697=
XM_011522193.1:c.2178T>A
XP_011520495.1:p.Ile726=
XM_011522194.1:c.1506T>A
XP_011520496.1:p.Ile502=
XM_006720761.3:c.2178T>A
XP_006720824.1:p.Ile726=
XM_006720762.3:c.2091T>A
XP_006720825.1:p.Ile697=
XM_011522193.3:c.2178T>A
XP_011520495.1:p.Ile726=
XM_017022718.1:c.2091T>A
XP_016878207.1:p.Ile697=
XM_017022719.2:c.2091T>A
XP_016878208.1:p.Ile697=
XM_017022720.2:c.2091T>A
XP_016878209.1:p.Ile697=
XM_017022721.2:c.1608T>A
XP_016878210.1:p.Ile536=
XM_017022722.1:c.1608T>A
XP_016878211.1:p.Ile536=
XM_024450098.1:c.1608T>A
XP_024305866.1:p.Ile536=
NM_005154.5:c.2178T>A
MANE Select
NP_005145.3:p.Ile726=
NM_001128610.3:c.2178T>A
NP_001122082.1:p.Ile726=
NM_001283049.2:c.1860T>A
NP_001269978.1:p.Ile620=