×
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.121854783G= , CM000666.2:g.121854783G=
GRCh38
NC_000004.11:g.122775938G= , CM000666.1:g.122775938G=
GRCh37
NC_000004.10:g.122995388G=
NCBI36
NG_009111.1:g.20705C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264499.9:c.639C=
MANE Select
ENSP00000264499.4:p.Asp213=
ENST00000264499.8:c.639C=
ENSP00000264499.4:p.Asp213=
ENST00000506636.1:c.639C=
ENSP00000423626.1:p.Asp213=
NM_018190.3:c.639C=
NP_060660.2:p.Asp213=
NM_176824.2:c.639C=
NP_789794.1:p.Asp213=
XM_005263106.2:c.642C=
XP_005263163.1:p.Asp214=
XM_011532079.1:c.687C=
XP_011530381.1:p.Asp229=
XM_011532080.1:c.684C=
XP_011530382.1:p.Asp228=
XM_011532081.1:c.687C=
XP_011530383.1:p.Asp229=
XM_005263106.4:c.642C=
XP_005263163.1:p.Asp214=
XM_011532079.3:c.687C=
XP_011530381.1:p.Asp229=
XM_011532080.3:c.684C=
XP_011530382.1:p.Asp228=
XM_011532081.3:c.687C=
XP_011530383.1:p.Asp229=
XM_017008357.2:c.639C=
XP_016863846.1:p.Asp213=
XM_017008358.2:c.642C=
XP_016863847.1:p.Asp214=
NM_176824.3:c.639C=
MANE Select
NP_789794.1:p.Asp213=
NM_018190.4:c.639C=
NP_060660.2:p.Asp213=