×
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_000001.11:g.100214897G>A , CM000663.2:g.100214897G>A
GRCh38
NC_000001.10:g.100680453G>A , CM000663.1:g.100680453G>A
GRCh37
NC_000001.9:g.100453041G>A
NCBI36
NG_011852.2:g.39957C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000681617.1:c.859C>T
ENSP00000505544.1:p.Leu287=
ENST00000681780.1:c.316C>T
ENSP00000505780.1:p.Leu106=
ENST00000370131.3:c.859C>T
ENSP00000359150.3:p.Leu287=
ENST00000370132.8:c.859C>T
MANE Select
ENSP00000359151.3:p.Leu287=
NM_001918.3:c.859C>T
NP_001909.3:p.Leu287=
XM_005270545.2:c.316C>T
XP_005270602.1:p.Leu106=
XM_005270546.2:c.316C>T
XP_005270603.1:p.Leu106=
XR_946560.1:n.879C>T
XM_005270545.4:c.316C>T
XP_005270602.1:p.Leu106=
XM_017000468.2:c.316C>T
XP_016855957.1:p.Leu106=
XM_017000469.2:c.316C>T
XP_016855958.1:p.Leu106=
XR_946560.3:n.876C>T
NM_001918.4:c.859C>T
NP_001909.3:p.Leu287=
NM_001918.5:c.859C>T
MANE Select
NP_001909.4:p.Leu287=
NM_001399969.1:c.316C>T
NP_001386898.1:p.Leu106=
NM_001399972.1:c.316C>T
NP_001386901.1:p.Leu106=
NR_174363.1:n.691C>T
NR_174364.1:n.873C>T
NR_174365.1:n.656C>T
NR_174366.1:n.873C>T