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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.186280576T>C , CM000666.2:g.186280576T>C
GRCh38
NC_000004.11:g.187201730T>C , CM000666.1:g.187201730T>C
GRCh37
NC_000004.10:g.187438724T>C
NCBI36
NG_008051.1:g.19613T>C , LRG_583:g.19613T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1131T>C
MANE Select
ENSP00000384957.2:p.Asp377=
ENST00000264692.8:c.969T>C
ENSP00000264692.5:p.Asp323=
ENST00000403665.6:c.1131T>C
ENSP00000384957.2:p.Asp377=
ENST00000452239.1:c.578T>C
NM_000128.3:c.1131T>C , LRG_583t1:c.1131T>C
NP_000119.1:p.Asp377=
XM_005262821.2:c.1134T>C
XP_005262878.1:p.Asp378=
XM_005262822.2:c.1134T>C
XP_005262879.1:p.Asp378=
XM_005262823.2:c.864T>C
XP_005262880.1:p.Asp288=
XM_005262824.1:c.1134T>C
XP_005262881.1:p.Asp378=
XM_006714137.1:c.1086T>C
XP_006714200.1:p.Asp362=
XR_938706.1:n.1486T>C
XR_938707.1:n.1486T>C
XM_005262821.4:c.1134T>C
XP_005262878.1:p.Asp378=
XM_005262822.4:c.1134T>C
XP_005262879.1:p.Asp378=
XM_005262823.4:c.864T>C
XP_005262880.1:p.Asp288=
XM_006714137.3:c.1086T>C
XP_006714200.1:p.Asp362=
XM_017007884.2:c.1134T>C
XP_016863373.1:p.Asp378=
XM_017007885.2:c.1134T>C
XP_016863374.1:p.Asp378=
XM_017007886.2:c.1131T>C
XP_016863375.1:p.Asp377=
XR_001741172.2:n.1552T>C
NM_000128.4:c.1131T>C
MANE Select
NP_000119.1:p.Asp377=