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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_000007.14:g.23165712A>T , CM000669.2:g.23165712A>T
GRCh38
NC_000007.13:g.23205331A>T , CM000669.1:g.23205331A>T
GRCh37
NC_000007.12:g.23171856A>T
NCBI36
NG_016983.1:g.64979A>T
NG_016983.2:g.64979A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000339077.10:c.951A>T
MANE Select
ENSP00000343273.4:p.Thr317=
ENST00000339077.9:c.951A>T
ENSP00000343273.4:p.Thr317=
ENST00000409689.5:c.807A>T
ENSP00000386263.1:p.Thr269=
ENST00000521082.5:c.*959A>T
ENSP00000430351.1:n.*959A>T
NM_001031710.2:c.951A>T
NP_001026880.2:p.Thr317=
NM_018846.4:c.807A>T
NP_061334.4:p.Thr269=
NR_033328.1:n.1375A>T
XM_006715753.1:c.990A>T
XP_006715816.1:p.Thr330=
XM_006715754.1:c.924A>T
XP_006715817.1:p.Thr308=
XM_006715755.1:c.924A>T
XP_006715818.1:p.Thr308=
XM_006715756.1:c.846A>T
XP_006715819.1:p.Thr282=
XM_006715753.3:c.990A>T
XP_006715816.1:p.Thr330=
XM_006715754.3:c.924A>T
XP_006715817.1:p.Thr308=
XM_006715755.3:c.924A>T
XP_006715818.1:p.Thr308=
XM_006715756.3:c.846A>T
XP_006715819.1:p.Thr282=
XM_017012439.2:c.885A>T
XP_016867928.1:p.Thr295=
NM_001031710.3:c.951A>T
MANE Select
NP_001026880.2:p.Thr317=
NM_018846.5:c.807A>T
NP_061334.4:p.Thr269=
NR_033328.2:n.1324A>T