×
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_000015.10:g.50242523G= , CM000677.2:g.50242523G=
GRCh38
NC_000015.9:g.50534720G= , CM000677.1:g.50534720G=
GRCh37
NC_000015.8:g.48322012G=
NCBI36
NG_027487.1:g.28443C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1726C=
MANE Select
ENSP00000267845.3:p.Gln576=
ENST00000267845.7:c.1726C=
ENSP00000267845.3:p.Gln576=
ENST00000543581.5:c.1627C=
ENSP00000440252.1:p.Gln543=
ENST00000559816.1:n.1470C=
NM_001306146.1:c.1627C=
NP_001293075.1:p.Gln543=
NM_002112.3:c.1726C=
NP_002103.2:p.Gln576=
XM_011521479.1:c.1489C=
XP_011519781.1:p.Gln497=
XM_011521480.1:c.1294C=
XP_011519782.1:p.Gln432=
XM_017022094.1:c.1831C=
XP_016877583.1:p.Gln611=
XM_017022095.1:c.1732C=
XP_016877584.1:p.Gln578=
XM_017022096.1:c.1603C=
XP_016877585.1:p.Gln535=
XM_017022097.1:c.1594C=
XP_016877586.1:p.Gln532=
XM_017022098.1:c.1399C=
XP_016877587.1:p.Gln467=
NM_002112.4:c.1726C=
MANE Select
NP_002103.2:p.Gln576=
NM_001306146.2:c.1627C=
NP_001293075.1:p.Gln543=