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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_000016.10:g.88835295G= , CM000678.2:g.88835295G=
GRCh38
NC_000016.9:g.88901703G= , CM000678.1:g.88901703G=
GRCh37
NC_000016.8:g.87429204G=
NCBI36
NG_008667.1:g.26672C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268695.10:c.816C=
MANE Select
ENSP00000268695.5:p.Leu272=
ENST00000268695.9:c.816C=
ENSP00000268695.5:p.Leu272=
ENST00000562593.5:n.4225C=
ENST00000562931.5:n.404C=
ENST00000567525.5:c.497C=
ENSP00000454484.1:n.497C=
ENST00000568613.5:c.935C=
ENSP00000457921.1:n.935C=
NM_000512.4:c.816C=
NP_000503.1:p.Leu272=
XM_005256301.2:c.816C=
XP_005256358.1:p.Leu272=
XM_005256302.1:c.834C=
XP_005256359.1:p.Leu278=
XM_011522982.1:c.834C=
XP_011521284.1:p.Leu278=
XM_011522984.1:c.834C=
XP_011521286.1:p.Leu278=
NM_001323543.1:c.261C=
NP_001310472.1:p.Leu87=
NM_001323544.1:c.834C=
NP_001310473.1:p.Leu278=
XM_005256301.3:c.816C=
XP_005256358.1:p.Leu272=
XM_011522982.2:c.834C=
XP_011521284.1:p.Leu278=
XM_017023111.2:c.834C=
XP_016878600.1:p.Leu278=
XM_017023112.2:c.834C=
XP_016878601.1:p.Leu278=
XM_017023113.1:c.261C=
XP_016878602.1:p.Leu87=
NM_000512.5:c.816C=
MANE Select
NP_000503.1:p.Leu272=
NM_001323543.2:c.261C=
NP_001310472.1:p.Leu87=
NM_001323544.2:c.834C=
NP_001310473.1:p.Leu278=