×
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.173909877T>A , CM000663.2:g.173909877T>A
GRCh38
NC_000001.10:g.173879015T>A , CM000663.1:g.173879015T>A
GRCh37
NC_000001.9:g.172145638T>A
NCBI36
NG_012462.1:g.12502A>T , LRG_577:g.12502A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367698.4:c.828A>T
MANE Select
ENSP00000356671.3:p.Gly276=
ENST00000367698.3:c.828A>T
ENSP00000356671.3:p.Gly276=
ENST00000487183.1:n.479A>T
ENST00000617423.4:c.559+1987A>T
ENSP00000478688.1:n.559+1987A>T
NM_000488.3:c.828A>T , LRG_577t1:c.828A>T
NP_000479.1:p.Gly276=
XM_005245198.2:c.684A>T
XP_005245255.1:p.Gly228=
NM_001365052.1:c.684A>T
NP_001351981.1:p.Gly228=
NM_000488.4:c.828A>T
MANE Select
NP_000479.1:p.Gly276=
NM_001365052.2:c.684A>T
NP_001351981.1:p.Gly228=
NM_001386302.1:c.951A>T
NP_001373231.1:p.Gly317=
NM_001386303.1:c.909A>T
NP_001373232.1:p.Gly303=
NM_001386304.1:c.807A>T
NP_001373233.1:p.Gly269=
NM_001386305.1:c.771A>T
NP_001373234.1:p.Gly257=
NM_001386306.1:c.612A>T
NP_001373235.1:p.Gly204=