×
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_000015.10:g.48756430A>G , CM000677.2:g.48756430A>G
GRCh38
NC_000015.9:g.49048627A>G , CM000677.1:g.49048627A>G
GRCh37
NC_000015.8:g.46835919A>G
NCBI36
NG_027518.1:g.59717T>C
NG_027518.2:g.59717T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000380950.7:c.2818T>C
MANE Select
ENSP00000370337.2:p.Leu940=
ENST00000325747.9:c.2539T>C
ENSP00000321000.5:p.Leu847=
ENST00000380950.6:c.2818T>C
ENSP00000370337.2:p.Leu940=
ENST00000399334.7:c.2818T>C
ENSP00000382271.3:p.Leu940=
NM_001194998.1:c.2818T>C
NP_001181927.1:p.Leu940=
NM_014985.3:c.2818T>C
NP_055800.2:p.Leu940=
XM_006720437.2:c.2818T>C
XP_006720500.1:p.Leu940=
XM_011521373.1:c.2818T>C
XP_011519675.1:p.Leu940=
XM_011521374.1:c.2818T>C
XP_011519676.1:p.Leu940=
XM_011521375.1:c.2818T>C
XP_011519677.1:p.Leu940=
XM_011521376.1:c.2818T>C
XP_011519678.1:p.Leu940=
XM_011521377.1:c.2818T>C
XP_011519679.1:p.Leu940=
XM_011521378.1:c.2818T>C
XP_011519680.1:p.Leu940=
XM_011521379.1:c.2818T>C
XP_011519681.1:p.Leu940=
XM_011521380.1:c.859T>C
XP_011519682.1:p.Leu287=
XM_011521381.1:c.853T>C
XP_011519683.1:p.Leu285=
XR_931769.1:n.3783T>C
XR_931770.1:n.3783T>C
XR_931771.1:n.3783T>C
XR_931772.1:n.3783T>C
XR_931773.1:n.3783T>C
XR_931774.1:n.3783T>C
XR_931775.1:n.3783T>C
XM_006720437.3:c.2818T>C
XP_006720500.1:p.Leu940=
XM_011521373.3:c.2818T>C
XP_011519675.1:p.Leu940=
XM_011521374.3:c.2818T>C
XP_011519676.1:p.Leu940=
XM_011521375.3:c.2818T>C
XP_011519677.1:p.Leu940=
XM_011521378.3:c.2818T>C
XP_011519680.1:p.Leu940=
XM_011521379.3:c.2818T>C
XP_011519681.1:p.Leu940=
XM_011521381.2:c.853T>C
XP_011519683.1:p.Leu285=
XM_017022015.1:c.853T>C
XP_016877504.1:p.Leu285=
XM_024449875.1:c.2818T>C
XP_024305643.1:p.Leu940=
XR_001751153.2:n.3769T>C
XR_931769.3:n.3769T>C
XR_931770.3:n.3769T>C
XR_931775.3:n.3769T>C
NM_001194998.2:c.2818T>C
MANE Select
NP_001181927.1:p.Leu940=
NM_014985.4:c.2818T>C
NP_055800.2:p.Leu940=