×
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.11274019T= , CM000663.2:g.11274019T=
GRCh38
NC_000001.10:g.11334076T= , CM000663.1:g.11334076T=
GRCh37
NC_000001.9:g.11256663T=
NCBI36
NG_009443.1:g.5822T=
NG_009443.2:g.5822T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000376810.6:c.488T=
MANE Select
ENSP00000366006.5:p.Ile163=
ENST00000376804.2:c.488T=
ENSP00000366000.1:p.Ile163=
ENST00000376810.5:c.488T=
ENSP00000366006.5:p.Ile163=
ENST00000483738.1:c.86T=
ENSP00000473453.1:p.Ile29=
ENST00000486588.6:c.131T=
ENSP00000473612.1:p.Ile44=
NM_013319.2:c.488T=
NP_037451.1:p.Ile163=
XM_006710590.2:c.488T=
XP_006710653.1:p.Ile163=
XM_011541304.1:c.488T=
XP_011539606.1:p.Ile163=
XR_946616.1:n.822T=
NM_001330349.1:c.488T=
NP_001317278.1:p.Ile163=
NM_001330350.1:c.488T=
NP_001317279.1:p.Ile163=
XR_946616.3:n.822T=
NM_001330349.2:c.488T=
NP_001317278.1:p.Ile163=
NM_001330350.2:c.488T=
NP_001317279.1:p.Ile163=
NM_013319.3:c.488T=
MANE Select
NP_037451.1:p.Ile163=