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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.39244478A>T , CM000666.2:g.39244478A>T
GRCh38
NC_000004.11:g.39246098A>T , CM000666.1:g.39246098A>T
GRCh37
NC_000004.10:g.38922493A>T
NCBI36
NG_031813.1:g.67075A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2571A>T
MANE Select
ENSP00000382717.3:p.Ser857=
ENST00000399820.7:c.2571A>T
ENSP00000382717.3:p.Ser857=
ENST00000506869.5:c.*2152A>T
ENSP00000424319.1:n.*2152A>T
ENST00000512095.5:n.1569A>T
NM_025132.3:c.2571A>T
NP_079408.3:p.Ser857=
XM_011513724.1:c.2583A>T
XP_011512026.1:p.Ser861=
XM_011513725.1:c.2517A>T
XP_011512027.1:p.Ser839=
XM_011513726.1:c.2103A>T
XP_011512028.1:p.Ser701=
XM_011513727.1:c.2103A>T
XP_011512029.1:p.Ser701=
XM_011513728.1:c.2091A>T
XP_011512030.1:p.Ser697=
XM_011513729.1:c.2583A>T
XP_011512031.1:p.Ser861=
XR_925155.1:n.2647A>T
NM_001317924.1:c.2091A>T
NP_001304853.1:p.Ser697=
XM_011513725.2:c.2517A>T
XP_011512027.1:p.Ser839=
XM_011513726.3:c.2103A>T
XP_011512028.1:p.Ser701=
XM_017008501.1:c.2091A>T
XP_016863990.1:p.Ser697=
XR_001741306.1:n.2647A>T
XR_001741307.1:n.2635A>T
XR_001741308.1:n.2647A>T
XR_001741309.1:n.2635A>T
XR_001741310.1:n.2635A>T
XR_001741311.2:n.2484A>T
NM_025132.4:c.2571A>T
MANE Select
NP_079408.3:p.Ser857=
NM_001317924.2:c.2091A>T
NP_001304853.1:p.Ser697=