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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_000020.11:g.46726922C>T , CM000682.2:g.46726922C>T
GRCh38
NC_000020.10:g.45355561C>T , CM000682.1:g.45355561C>T
GRCh37
NC_000020.9:g.44788968C>T
NCBI36
NG_016284.1:g.22283C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.1347C>T
MANE Select
ENSP00000352216.2:p.Ala449=
ENST00000359271.3:c.1347C>T
ENSP00000352216.2:p.Ala449=
NM_030777.3:c.1347C>T
NP_110404.1:p.Ala449=
XM_011529060.1:c.1410C>T
XP_011527362.1:p.Ala470=
XM_011529061.1:c.1356C>T
XP_011527363.1:p.Ala452=
XM_011529062.1:c.1459C>T
XP_011527364.1:p.Leu487Phe
XM_011529063.1:c.1410C>T
XP_011527365.1:p.Ala470=
XM_011529064.1:c.1459C>T
XP_011527366.1:p.Leu487Phe
XM_011529065.1:c.1410C>T
XP_011527367.1:p.Ala470=
XR_936641.1:n.1595C>T
XM_011529060.2:c.1410C>T
XP_011527362.1:p.Ala470=
XM_011529061.2:c.1356C>T
XP_011527363.1:p.Ala452=
XM_011529062.2:c.1459C>T
XP_011527364.1:p.Leu487Phe
XM_011529063.2:c.1410C>T
XP_011527365.1:p.Ala470=
XM_011529064.2:c.1459C>T
XP_011527366.1:p.Leu487Phe
XM_011529065.2:c.1410C>T
XP_011527367.1:p.Ala470=
XM_017028087.2:c.1347C>T
XP_016883576.1:p.Ala449=
XR_936641.2:n.1582C>T
NM_030777.4:c.1347C>T
MANE Select
NP_110404.1:p.Ala449=