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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_000004.12:g.109945244A= , CM000666.2:g.109945244A=
GRCh38
NC_000004.11:g.110866400A= , CM000666.1:g.110866400A=
GRCh37
NC_000004.10:g.111085849A=
NCBI36
NG_011441.1:g.37361A=
NG_011441.2:g.37361A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000265171.10:c.909A=
MANE Select
ENSP00000265171.5:p.Gln303=
ENST00000652245.1:c.909A=
ENSP00000498337.1:p.Gln303=
ENST00000265171.9:c.909A=
ENSP00000265171.5:p.Gln303=
ENST00000503392.1:c.909A=
ENSP00000421384.1:p.Gln303=
ENST00000509793.5:c.909A=
ENSP00000424316.1:p.Gln303=
NM_001178130.1:c.909A=
NP_001171601.1:p.Gln303=
NM_001178131.1:c.909A=
NP_001171602.1:p.Gln303=
NM_001963.4:c.909A=
NP_001954.2:p.Gln303=
XM_005262796.2:c.909A=
XP_005262853.1:p.Gln303=
XM_005262797.2:c.909A=
XP_005262854.1:p.Gln303=
XM_005262798.2:c.909A=
XP_005262855.1:p.Gln303=
XM_005262800.2:c.909A=
XP_005262857.1:p.Gln303=
XM_005262801.2:c.909A=
XP_005262858.1:p.Gln303=
XM_005262802.2:c.909A=
XP_005262859.1:p.Gln303=
XM_006714124.2:c.909A=
XP_006714187.1:p.Gln303=
XM_011531707.1:c.798A=
XP_011530009.1:p.Gln266=
XM_011531708.1:c.909A=
XP_011530010.1:p.Gln303=
XM_011531709.1:c.909A=
XP_011530011.1:p.Gln303=
XR_427532.2:n.1362A=
XR_938699.1:n.1362A=
NM_001178130.2:c.909A=
NP_001171601.1:p.Gln303=
NM_001178131.2:c.909A=
NP_001171602.1:p.Gln303=
NM_001357021.1:c.909A=
NP_001343950.1:p.Gln303=
NM_001963.5:c.909A=
NP_001954.2:p.Gln303=
XM_017007845.1:c.933A=
XP_016863334.1:p.Gln311=
XM_017007846.1:c.933A=
XP_016863335.1:p.Gln311=
XM_017007847.1:c.933A=
XP_016863336.1:p.Gln311=
XM_017007848.1:c.933A=
XP_016863337.1:p.Gln311=
XM_017007849.1:c.933A=
XP_016863338.1:p.Gln311=
XM_017007850.1:c.933A=
XP_016863339.1:p.Gln311=
XM_017007851.1:c.933A=
XP_016863340.1:p.Gln311=
XM_017007853.1:c.933A=
XP_016863342.1:p.Gln311=
XM_017007854.1:c.933A=
XP_016863343.1:p.Gln311=
XM_017007855.1:c.933A=
XP_016863344.1:p.Gln311=
XR_001741156.1:n.1386A=
XR_001741157.1:n.1386A=
NM_001178130.3:c.909A=
NP_001171601.1:p.Gln303=
NM_001178131.3:c.909A=
NP_001171602.1:p.Gln303=
NM_001357021.2:c.909A=
NP_001343950.1:p.Gln303=
NM_001963.6:c.909A=
MANE Select
NP_001954.2:p.Gln303=