×
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_000001.11:g.173909674T= , CM000663.2:g.173909674T=
GRCh38
NC_000001.10:g.173878812T= , CM000663.1:g.173878812T=
GRCh37
NC_000001.9:g.172145435T=
NCBI36
NG_012462.1:g.12705A= , LRG_577:g.12705A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.1031A=
MANE Select
ENSP00000356671.3:p.Glu344=
ENST00000367698.3:c.1031A=
ENSP00000356671.3:p.Glu344=
ENST00000617423.4:c.560-2181A=
ENSP00000478688.1:n.560-2181A=
NM_000488.3:c.1031A= , LRG_577t1:c.1031A=
NP_000479.1:p.Glu344=
XM_005245198.2:c.887A=
XP_005245255.1:p.Glu296=
NM_001365052.1:c.887A=
NP_001351981.1:p.Glu296=
NM_000488.4:c.1031A=
MANE Select
NP_000479.1:p.Glu344=
NM_001365052.2:c.887A=
NP_001351981.1:p.Glu296=
NM_001386302.1:c.1154A=
NP_001373231.1:p.Glu385=
NM_001386303.1:c.1112A=
NP_001373232.1:p.Glu371=
NM_001386304.1:c.1010A=
NP_001373233.1:p.Glu337=
NM_001386305.1:c.974A=
NP_001373234.1:p.Glu325=
NM_001386306.1:c.815A=
NP_001373235.1:p.Glu272=