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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_000005.10:g.7895758A= , CM000667.2:g.7895758A=
GRCh38
NC_000005.9:g.7895871A= , CM000667.1:g.7895871A=
GRCh37
NC_000005.8:g.7948871A=
NCBI36
NG_008856.1:g.31655A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000440940.7:c.1582A=
MANE Select
ENSP00000402510.2:p.Asn528=
ENST00000264668.6:c.1663A=
ENSP00000264668.2:p.Asn555=
ENST00000440940.6:c.1582A=
ENSP00000402510.2:p.Asn528=
ENST00000510525.5:c.1518A=
ENST00000511461.5:c.1495A=
ENST00000513439.5:c.*1289A=
ENSP00000426710.1:n.*1289A=
NM_002454.2:c.1582A=
NP_002445.2:p.Asn528=
NM_024010.2:c.1663A=
NP_076915.2:p.Asn555=
XM_011514043.1:c.1663A=
XP_011512345.1:p.Asn555=
XM_011514044.1:c.1582A=
XP_011512346.1:p.Asn528=
XR_241702.1:n.1596A=
XR_241703.1:n.1589A=
XR_925614.1:n.1708A=
NM_001364440.1:c.1582A=
NP_001351369.1:p.Asn528=
NM_001364441.1:c.1582A=
NP_001351370.1:p.Asn528=
NM_001364442.1:c.1582A=
NP_001351371.1:p.Asn528=
NM_024010.3:c.1582A=
NP_076915.3:p.Asn528=
NR_134480.1:n.1705A=
NR_134481.1:n.1630A=
NR_134482.1:n.1565A=
NR_157168.1:n.1635A=
NR_157169.1:n.1495A=
NR_157170.1:n.1661A=
NR_157171.1:n.1518A=
NR_157172.1:n.1432A=
NR_157173.1:n.1672A=
NR_157174.1:n.1673A=
NR_157175.1:n.1827A=
NR_157176.1:n.1990A=
NR_157177.1:n.1670A=
NR_157178.1:n.1698A=
XM_024446063.1:c.1627A=
XP_024301831.1:p.Asn543=
XM_024446064.1:c.1582A=
XP_024301832.1:p.Asn528=
XR_001742071.1:n.1860A=
XR_001742072.1:n.1837A=
XR_001742074.1:n.1596A=
XR_001742075.1:n.1748A=
XR_001742076.1:n.1825A=
XR_001742077.1:n.1848A=
NM_001364440.2:c.1582A=
NP_001351369.1:p.Asn528=
NM_001364441.2:c.1582A=
NP_001351370.1:p.Asn528=
NM_001364442.2:c.1582A=
NP_001351371.1:p.Asn528=
NM_002454.3:c.1582A=
MANE Select
NP_002445.2:p.Asn528=
NM_024010.4:c.1582A=
NP_076915.3:p.Asn528=
NR_134480.2:n.1661A=
NR_134481.2:n.1586A=
NR_134482.2:n.1521A=
NR_157168.2:n.1635A=
NR_157169.2:n.1495A=
NR_157170.2:n.1661A=
NR_157171.2:n.1518A=
NR_157172.2:n.1432A=
NR_157173.2:n.1672A=
NR_157174.2:n.1673A=
NR_157175.2:n.1827A=
NR_157176.2:n.1990A=
NR_157177.2:n.1670A=
NR_157178.2:n.1698A=