×
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_000020.11:g.46725466A= , CM000682.2:g.46725466A=
GRCh38
NC_000020.10:g.45354105A= , CM000682.1:g.45354105A=
GRCh37
NC_000020.9:g.44787512A=
NCBI36
NG_016284.1:g.20827A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.430A=
MANE Select
ENSP00000352216.2:p.Thr144=
ENST00000359271.3:c.430A=
ENSP00000352216.2:p.Thr144=
ENST00000611837.1:n.582A=
NM_030777.3:c.430A=
NP_110404.1:p.Thr144=
XM_011529060.1:c.493A=
XP_011527362.1:p.Thr165=
XM_011529061.1:c.439A=
XP_011527363.1:p.Thr147=
XM_011529062.1:c.493A=
XP_011527364.1:p.Thr165=
XM_011529063.1:c.493A=
XP_011527365.1:p.Thr165=
XM_011529064.1:c.493A=
XP_011527366.1:p.Thr165=
XM_011529065.1:c.493A=
XP_011527367.1:p.Thr165=
XR_936641.1:n.629A=
XM_011529060.2:c.493A=
XP_011527362.1:p.Thr165=
XM_011529061.2:c.439A=
XP_011527363.1:p.Thr147=
XM_011529062.2:c.493A=
XP_011527364.1:p.Thr165=
XM_011529063.2:c.493A=
XP_011527365.1:p.Thr165=
XM_011529064.2:c.493A=
XP_011527366.1:p.Thr165=
XM_011529065.2:c.493A=
XP_011527367.1:p.Thr165=
XM_017028087.2:c.430A=
XP_016883576.1:p.Thr144=
XR_936641.2:n.616A=
NM_030777.4:c.430A=
MANE Select
NP_110404.1:p.Thr144=