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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_000005.10:g.90627225T>C , CM000667.2:g.90627225T>C
GRCh38
NC_000005.9:g.89923042T>C , CM000667.1:g.89923042T>C
GRCh37
NC_000005.8:g.89958798T>C
NCBI36
NG_007083.1:g.73426T>C
NG_007083.2:g.102882T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000405460.9:c.687T>C
MANE Select
ENSP00000384582.2:p.Asp229=
ENST00000640083.1:n.392T>C
ENST00000640109.1:n.783T>C
ENST00000640281.1:n.746T>C
ENST00000405460.6:c.687T>C
ENSP00000384582.2:p.Asp229=
NM_032119.3:c.687T>C
NP_115495.3:p.Asp229=
NR_003149.1:n.783T>C
XM_011543675.1:c.687T>C
XP_011541977.1:p.Asp229=
XM_011543676.1:c.687T>C
XP_011541978.1:p.Asp229=
XM_011543678.1:c.687T>C
XP_011541980.1:p.Asp229=
XM_011543679.1:c.687T>C
XP_011541981.1:p.Asp229=
NM_032119.4:c.687T>C
MANE Select
NP_115495.3:p.Asp229=
XM_017009963.2:c.687T>C
XP_016865452.1:p.Asp229=
XM_017009964.2:c.687T>C
XP_016865453.1:p.Asp229=
XM_017009965.1:c.684T>C
XP_016865454.1:p.Asp228=
XM_017009966.2:c.687T>C
XP_016865455.1:p.Asp229=
XM_017009967.1:c.591T>C
XP_016865456.1:p.Asp197=
XM_017009968.2:c.687T>C
XP_016865457.1:p.Asp229=
XM_017009969.2:c.687T>C
XP_016865458.1:p.Asp229=
XM_017009970.2:c.687T>C
XP_016865459.1:p.Asp229=
XM_017009971.2:c.687T>C
XP_016865460.1:p.Asp229=
XM_017009974.2:c.687T>C
XP_016865463.1:p.Asp229=
NR_003149.2:n.786T>C