×
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_000004.12:g.664937A= , CM000666.2:g.664937A=
GRCh38
NC_000004.11:g.658726A= , CM000666.1:g.658726A=
GRCh37
NC_000004.10:g.648726A=
NCBI36
NG_009839.1:g.44364A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000496514.6:c.2186A=
MANE Select
ENSP00000420295.1:p.Gln729=
ENST00000255622.10:c.2186A=
ENSP00000255622.6:p.Gln729=
ENST00000429163.6:c.1349A=
ENSP00000406334.2:p.Gln450=
ENST00000461490.1:c.28A=
ENST00000471824.6:c.266A=
ENSP00000417852.2:p.Gln89=
ENST00000496514.5:c.2186A=
ENSP00000420295.1:p.Gln729=
NM_000283.3:c.2186A=
NP_000274.2:p.Gln729=
NM_001145291.1:c.2186A=
NP_001138763.1:p.Gln729=
NM_001145292.1:c.1349A=
NP_001138764.1:p.Gln450=
XM_011513473.1:c.2405A=
XP_011511775.1:p.Gln802=
XM_011513474.1:c.2405A=
XP_011511776.1:p.Gln802=
XM_011513475.1:c.2186A=
XP_011511777.1:p.Gln729=
XM_011513476.1:c.2405A=
XP_011511778.1:p.Gln802=
XM_011513477.1:c.1391A=
XP_011511779.1:p.Gln464=
XM_011513478.1:c.1115A=
XP_011511780.1:p.Gln372=
NM_001350154.1:c.1349A=
NP_001337083.1:p.Gln450=
NM_001350155.1:c.1031A=
NP_001337084.1:p.Gln344=
XM_011513473.3:c.2405A=
XP_011511775.1:p.Gln802=
XM_011513474.3:c.2405A=
XP_011511776.1:p.Gln802=
XM_011513475.2:c.2186A=
XP_011511777.1:p.Gln729=
XM_011513476.3:c.2405A=
XP_011511778.1:p.Gln802=
XM_011513478.2:c.1115A=
XP_011511780.1:p.Gln372=
XM_017008284.1:c.1349A=
XP_016863773.1:p.Gln450=
XM_017008285.1:c.1349A=
XP_016863774.1:p.Gln450=
XM_017008286.1:c.1349A=
XP_016863775.1:p.Gln450=
NM_001350154.2:c.1349A=
NP_001337083.1:p.Gln450=
NM_001350155.2:c.1031A=
NP_001337084.1:p.Gln344=
NM_000283.4:c.2186A=
MANE Select
NP_000274.3:p.Gln729=
NM_001145291.2:c.2186A=
NP_001138763.2:p.Gln729=
NM_001145292.2:c.1349A=
NP_001138764.2:p.Gln450=
NM_001350154.3:c.1349A=
NP_001337083.1:p.Gln450=
NM_001350155.3:c.1031A=
NP_001337084.1:p.Gln344=
NM_001379246.1:c.1349A=
NP_001366175.1:p.Gln450=
NM_001379247.1:c.1349A=
NP_001366176.1:p.Gln450=