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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_000004.12:g.186285737C>A , CM000666.2:g.186285737C>A
GRCh38
NC_000004.11:g.187206891C>A , CM000666.1:g.187206891C>A
GRCh37
NC_000004.10:g.187443885C>A
NCBI36
NG_008051.1:g.24774C>A , LRG_583:g.24774C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1404C>A
MANE Select
ENSP00000384957.2:p.Ile468=
ENST00000264691.4:c.100C>A
ENST00000264692.8:c.1242C>A
ENSP00000264692.5:p.Ile414=
ENST00000403665.6:c.1404C>A
ENSP00000384957.2:p.Ile468=
NM_000128.3:c.1404C>A , LRG_583t1:c.1404C>A
NP_000119.1:p.Ile468=
XM_005262821.2:c.1407C>A
XP_005262878.1:p.Ile469=
XM_005262822.2:c.1407C>A
XP_005262879.1:p.Ile469=
XM_005262823.2:c.1137C>A
XP_005262880.1:p.Ile379=
XM_005262824.1:c.1407C>A
XP_005262881.1:p.Ile469=
XM_006714137.1:c.1359C>A
XP_006714200.1:p.Ile453=
XR_938706.1:n.1812C>A
XR_938707.1:n.1812C>A
XM_005262821.4:c.1407C>A
XP_005262878.1:p.Ile469=
XM_005262822.4:c.1407C>A
XP_005262879.1:p.Ile469=
XM_005262823.4:c.1137C>A
XP_005262880.1:p.Ile379=
XM_006714137.3:c.1359C>A
XP_006714200.1:p.Ile453=
XR_001741172.2:n.1878C>A
NM_000128.4:c.1404C>A
MANE Select
NP_000119.1:p.Ile468=