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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.90627282T>A , CM000667.2:g.90627282T>A
GRCh38
NC_000005.9:g.89923099T>A , CM000667.1:g.89923099T>A
GRCh37
NC_000005.8:g.89958855T>A
NCBI36
NG_007083.1:g.73483T>A
NG_007083.2:g.102939T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000405460.9:c.744T>A
MANE Select
ENSP00000384582.2:p.Ser248=
ENST00000640083.1:n.449T>A
ENST00000640109.1:n.840T>A
ENST00000640281.1:n.803T>A
ENST00000405460.6:c.744T>A
ENSP00000384582.2:p.Ser248=
NM_032119.3:c.744T>A
NP_115495.3:p.Ser248=
NR_003149.1:n.840T>A
XM_011543675.1:c.744T>A
XP_011541977.1:p.Ser248=
XM_011543676.1:c.744T>A
XP_011541978.1:p.Ser248=
XM_011543678.1:c.744T>A
XP_011541980.1:p.Ser248=
XM_011543679.1:c.744T>A
XP_011541981.1:p.Ser248=
NM_032119.4:c.744T>A
MANE Select
NP_115495.3:p.Ser248=
XM_017009963.2:c.744T>A
XP_016865452.1:p.Ser248=
XM_017009964.2:c.744T>A
XP_016865453.1:p.Ser248=
XM_017009965.1:c.741T>A
XP_016865454.1:p.Ser247=
XM_017009966.2:c.744T>A
XP_016865455.1:p.Ser248=
XM_017009967.1:c.648T>A
XP_016865456.1:p.Ser216=
XM_017009968.2:c.744T>A
XP_016865457.1:p.Ser248=
XM_017009969.2:c.744T>A
XP_016865458.1:p.Ser248=
XM_017009970.2:c.744T>A
XP_016865459.1:p.Ser248=
XM_017009971.2:c.744T>A
XP_016865460.1:p.Ser248=
XM_017009974.2:c.744T>A
XP_016865463.1:p.Ser248=
NR_003149.2:n.843T>A