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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500 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.
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39244310T>A , CM000666.2:g.39244310T>A
GRCh38
NC_000004.11:g.39245930T>A , CM000666.1:g.39245930T>A
GRCh37
NC_000004.10:g.38922325T>A
NCBI36
NG_031813.1:g.66907T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2484T>A
MANE Select
ENSP00000382717.3:p.Arg828=
ENST00000399820.7:c.2484T>A
ENSP00000382717.3:p.Arg828=
ENST00000506869.5:c.*2065T>A
ENSP00000424319.1:n.*2065T>A
ENST00000512095.5:n.1482T>A
NM_025132.3:c.2484T>A
NP_079408.3:p.Arg828=
XM_011513724.1:c.2496T>A
XP_011512026.1:p.Arg832=
XM_011513725.1:c.2430T>A
XP_011512027.1:p.Arg810=
XM_011513726.1:c.2016T>A
XP_011512028.1:p.Arg672=
XM_011513727.1:c.2016T>A
XP_011512029.1:p.Arg672=
XM_011513728.1:c.2004T>A
XP_011512030.1:p.Arg668=
XM_011513729.1:c.2496T>A
XP_011512031.1:p.Arg832=
XR_925155.1:n.2560T>A
NM_001317924.1:c.2004T>A
NP_001304853.1:p.Arg668=
XM_011513725.2:c.2430T>A
XP_011512027.1:p.Arg810=
XM_011513726.3:c.2016T>A
XP_011512028.1:p.Arg672=
XM_017008501.1:c.2004T>A
XP_016863990.1:p.Arg668=
XR_001741306.1:n.2560T>A
XR_001741307.1:n.2548T>A
XR_001741308.1:n.2560T>A
XR_001741309.1:n.2548T>A
XR_001741310.1:n.2548T>A
XR_001741311.2:n.2397T>A
NM_025132.4:c.2484T>A
MANE Select
NP_079408.3:p.Arg828=
NM_001317924.2:c.2004T>A
NP_001304853.1:p.Arg668=