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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.122938138T>C , CM000666.2:g.122938138T>C
GRCh38
NC_000004.11:g.123859293T>C , CM000666.1:g.123859293T>C
GRCh37
NC_000004.10:g.124078743T>C
NCBI36
NG_051570.1:g.20069T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274008.5:c.1347T>C
MANE Select
ENSP00000274008.3:p.Ile449=
ENST00000674886.1:n.1409T>C
ENST00000675612.1:c.1344T>C
ENSP00000502453.1:p.Ile448=
ENST00000274008.4:c.1347T>C
ENSP00000274008.3:p.Ile449=
ENST00000422835.2:n.1389T>C
NM_145207.2:c.1347T>C
NP_660208.2:p.Ile449=
XM_005262783.3:c.1344T>C
XP_005262840.1:p.Ile448=
XM_011531678.1:c.1344T>C
XP_011529980.1:p.Ile448=
XM_011531679.1:c.1347T>C
XP_011529981.1:p.Ile449=
NM_001317799.1:c.1344T>C
NP_001304728.1:p.Ile448=
NM_001345856.1:c.1344T>C
NP_001332785.1:p.Ile448=
XM_011531678.2:c.1344T>C
XP_011529980.1:p.Ile448=
XM_011531679.3:c.1347T>C
XP_011529981.1:p.Ile449=
XM_017007825.1:c.1347T>C
XP_016863314.1:p.Ile449=
XM_017007826.1:c.1347T>C
XP_016863315.1:p.Ile449=
XM_017007827.2:c.1347T>C
XP_016863316.1:p.Ile449=
XM_017007828.1:c.1125T>C
XP_016863317.1:p.Ile375=
XM_017007829.1:c.891T>C
XP_016863318.1:p.Ile297=
XM_017007830.1:c.1347T>C
XP_016863319.1:p.Ile449=
XR_001741151.1:n.1417T>C
NM_145207.3:c.1347T>C
MANE Select
NP_660208.2:p.Ile449=
NM_001317799.2:c.1344T>C
NP_001304728.1:p.Ile448=
NM_001345856.2:c.1344T>C
NP_001332785.1:p.Ile448=