×
SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.92517471T>A , CM000669.2:g.92517471T>A
GRCh38
NC_000007.13:g.92146785T>A , CM000669.1:g.92146785T>A
GRCh37
NC_000007.12:g.91984721T>A
NCBI36
NG_008341.1:g.16061A>T
NG_008341.2:g.16061A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000248633.9:c.1044A>T
MANE Select
ENSP00000248633.4:p.Thr348=
ENST00000248633.8:c.1044A>T
ENSP00000248633.4:p.Thr348=
ENST00000428214.5:c.1044A>T
ENSP00000394413.1:p.Thr348=
ENST00000438045.5:c.274-3504A>T
ENSP00000410438.1:n.274-3504A>T
ENST00000484913.5:n.1083A>T
NM_000466.2:c.1044A>T
NP_000457.1:p.Thr348=
NM_001282677.1:c.1044A>T
NP_001269606.1:p.Thr348=
NM_001282678.1:c.420A>T
NP_001269607.1:p.Thr140=
XR_242246.3:n.1140A>T
XM_017012319.2:c.-623A>T
XP_016867808.1:n.-623A>T
XR_001744808.2:n.154A>T
XR_242246.5:n.1091A>T
NM_000466.3:c.1044A>T
MANE Select
NP_000457.1:p.Thr348=
NM_001282677.2:c.1044A>T
NP_001269606.1:p.Thr348=
NM_001282678.2:c.420A>T
NP_001269607.1:p.Thr140=