×
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.39244307A>C , CM000666.2:g.39244307A>C
GRCh38
NC_000004.11:g.39245927A>C , CM000666.1:g.39245927A>C
GRCh37
NC_000004.10:g.38922322A>C
NCBI36
NG_031813.1:g.66904A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399820.8:c.2481A>C
MANE Select
ENSP00000382717.3:p.Ile827=
ENST00000399820.7:c.2481A>C
ENSP00000382717.3:p.Ile827=
ENST00000506869.5:c.*2062A>C
ENSP00000424319.1:n.*2062A>C
ENST00000512095.5:n.1479A>C
NM_025132.3:c.2481A>C
NP_079408.3:p.Ile827=
XM_011513724.1:c.2493A>C
XP_011512026.1:p.Ile831=
XM_011513725.1:c.2427A>C
XP_011512027.1:p.Ile809=
XM_011513726.1:c.2013A>C
XP_011512028.1:p.Ile671=
XM_011513727.1:c.2013A>C
XP_011512029.1:p.Ile671=
XM_011513728.1:c.2001A>C
XP_011512030.1:p.Ile667=
XM_011513729.1:c.2493A>C
XP_011512031.1:p.Ile831=
XR_925155.1:n.2557A>C
NM_001317924.1:c.2001A>C
NP_001304853.1:p.Ile667=
XM_011513725.2:c.2427A>C
XP_011512027.1:p.Ile809=
XM_011513726.3:c.2013A>C
XP_011512028.1:p.Ile671=
XM_017008501.1:c.2001A>C
XP_016863990.1:p.Ile667=
XR_001741306.1:n.2557A>C
XR_001741307.1:n.2545A>C
XR_001741308.1:n.2557A>C
XR_001741309.1:n.2545A>C
XR_001741310.1:n.2545A>C
XR_001741311.2:n.2394A>C
NM_025132.4:c.2481A>C
MANE Select
NP_079408.3:p.Ile827=
NM_001317924.2:c.2001A>C
NP_001304853.1:p.Ile667=