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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_000001.11:g.25557255C>A , CM000663.2:g.25557255C>A
GRCh38
NC_000001.10:g.25883746C>A , CM000663.1:g.25883746C>A
GRCh37
NC_000001.9:g.25756333C>A
NCBI36
NG_008932.1:g.18671C>A , LRG_276:g.18671C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000374338.5:c.447C>A
MANE Select
ENSP00000363458.4:p.Thr149=
ENST00000374338.4:c.447C>A
ENSP00000363458.4:p.Thr149=
ENST00000462394.1:n.195C>A
ENST00000488127.1:n.917C>A
NM_015627.2:c.447C>A , LRG_276t1:c.447C>A
NP_056442.2:p.Thr149=
XM_006710559.2:c.447C>A
XP_006710622.1:p.Thr149=
XM_006710560.2:c.447C>A
XP_006710623.1:p.Thr149=
XM_006710561.2:c.447C>A
XP_006710624.1:p.Thr149=
XM_011541209.1:c.447C>A
XP_011539511.1:p.Thr149=
XM_011541210.1:c.447C>A
XP_011539512.1:p.Thr149=
XM_011541211.1:c.447C>A
XP_011539513.1:p.Thr149=
XM_011541212.1:c.447C>A
XP_011539514.1:p.Thr149=
XR_426598.2:n.566C>A
XR_946602.1:n.566C>A
XR_946603.1:n.566C>A
XM_006710559.4:c.447C>A
XP_006710622.1:p.Thr149=
XM_006710560.4:c.447C>A
XP_006710623.1:p.Thr149=
XM_006710561.4:c.447C>A
XP_006710624.1:p.Thr149=
XM_011541209.3:c.447C>A
XP_011539511.1:p.Thr149=
XM_011541210.3:c.447C>A
XP_011539512.1:p.Thr149=
XM_011541211.3:c.447C>A
XP_011539513.1:p.Thr149=
XM_011541212.3:c.447C>A
XP_011539514.1:p.Thr149=
XM_017000994.2:c.366C>A
XP_016856483.1:p.Thr122=
XM_017000995.2:c.447C>A
XP_016856484.1:p.Thr149=
XM_024446315.1:c.312C>A
XP_024302083.1:p.Thr104=
XR_001737112.2:n.517C>A
XR_001737113.2:n.517C>A
XR_002956258.1:n.517C>A
XR_426598.4:n.517C>A
XR_946602.3:n.517C>A
XR_946603.3:n.517C>A
NM_015627.3:c.447C>A
MANE Select
NP_056442.2:p.Thr149=