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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_000015.10:g.100281247G>A , CM000677.2:g.100281247G>A
GRCh38
NC_000015.9:g.100821452G>A , CM000677.1:g.100821452G>A
GRCh37
NC_000015.8:g.98638975G>A
NCBI36
NG_016287.1:g.65732C>T
NG_016287.2:g.65732C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268070.9:c.771C>T
MANE Select
ENSP00000268070.4:p.Ile257=
ENST00000568565.2:c.771C>T
ENSP00000456161.2:p.Ile257=
ENST00000268070.8:c.771C>T
ENSP00000268070.4:p.Ile257=
ENST00000378898.8:n.452C>T
ENST00000558960.1:c.*193C>T
ENSP00000453604.1:n.*193C>T
NM_139057.2:c.771C>T
NP_620688.2:p.Ile257=
XM_005254872.2:c.771C>T
XP_005254929.1:p.Ile257=
XM_011521312.1:c.771C>T
XP_011519614.1:p.Ile257=
NM_139057.3:c.771C>T
NP_620688.2:p.Ile257=
XM_005254872.3:c.771C>T
XP_005254929.1:p.Ile257=
XM_011521312.2:c.771C>T
XP_011519614.1:p.Ile257=
XM_017021973.2:c.771C>T
XP_016877462.1:p.Ile257=
XM_017021974.1:c.771C>T
XP_016877463.1:p.Ile257=
XM_017021975.1:c.771C>T
XP_016877464.1:p.Ile257=
XM_017021976.1:c.42C>T
XP_016877465.1:p.Ile14=
XM_017021977.1:c.771C>T
XP_016877466.1:p.Ile257=
XM_017021981.1:c.771C>T
XP_016877470.1:p.Ile257=
XM_017021984.1:c.42C>T
XP_016877473.1:p.Ile14=
XR_001751118.1:n.1793C>T
XR_001751119.1:n.1793C>T
XR_001751120.1:n.1793C>T
NM_139057.4:c.771C>T
MANE Select
NP_620688.2:p.Ile257=