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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_000004.12:g.122938243T>A , CM000666.2:g.122938243T>A
GRCh38
NC_000004.11:g.123859398T>A , CM000666.1:g.123859398T>A
GRCh37
NC_000004.10:g.124078848T>A
NCBI36
NG_051570.1:g.20174T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274008.5:c.1452T>A
MANE Select
ENSP00000274008.3:p.Ile484=
ENST00000674886.1:n.1514T>A
ENST00000675612.1:c.1449T>A
ENSP00000502453.1:p.Ile483=
ENST00000274008.4:c.1452T>A
ENSP00000274008.3:p.Ile484=
ENST00000422835.2:n.1494T>A
NM_145207.2:c.1452T>A
NP_660208.2:p.Ile484=
XM_005262783.3:c.1449T>A
XP_005262840.1:p.Ile483=
XM_011531678.1:c.1449T>A
XP_011529980.1:p.Ile483=
XM_011531679.1:c.1452T>A
XP_011529981.1:p.Ile484=
NM_001317799.1:c.1449T>A
NP_001304728.1:p.Ile483=
NM_001345856.1:c.1449T>A
NP_001332785.1:p.Ile483=
XM_011531678.2:c.1449T>A
XP_011529980.1:p.Ile483=
XM_011531679.3:c.1452T>A
XP_011529981.1:p.Ile484=
XM_017007825.1:c.1452T>A
XP_016863314.1:p.Ile484=
XM_017007826.1:c.1452T>A
XP_016863315.1:p.Ile484=
XM_017007827.2:c.1452T>A
XP_016863316.1:p.Ile484=
XM_017007828.1:c.1230T>A
XP_016863317.1:p.Ile410=
XM_017007829.1:c.996T>A
XP_016863318.1:p.Ile332=
XM_017007830.1:c.1452T>A
XP_016863319.1:p.Ile484=
XR_001741151.1:n.1522T>A
NM_145207.3:c.1452T>A
MANE Select
NP_660208.2:p.Ile484=
NM_001317799.2:c.1449T>A
NP_001304728.1:p.Ile483=
NM_001345856.2:c.1449T>A
NP_001332785.1:p.Ile483=