×
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_000020.11:g.46725702C= , CM000682.2:g.46725702C=
GRCh38
NC_000020.10:g.45354341C= , CM000682.1:g.45354341C=
GRCh37
NC_000020.9:g.44787748C=
NCBI36
NG_016284.1:g.21063C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000359271.4:c.666C=
MANE Select
ENSP00000352216.2:p.Phe222=
ENST00000359271.3:c.666C=
ENSP00000352216.2:p.Phe222=
NM_030777.3:c.666C=
NP_110404.1:p.Phe222=
XM_011529060.1:c.729C=
XP_011527362.1:p.Phe243=
XM_011529061.1:c.675C=
XP_011527363.1:p.Phe225=
XM_011529062.1:c.729C=
XP_011527364.1:p.Phe243=
XM_011529063.1:c.729C=
XP_011527365.1:p.Phe243=
XM_011529064.1:c.729C=
XP_011527366.1:p.Phe243=
XM_011529065.1:c.729C=
XP_011527367.1:p.Phe243=
XR_936641.1:n.865C=
XM_011529060.2:c.729C=
XP_011527362.1:p.Phe243=
XM_011529061.2:c.675C=
XP_011527363.1:p.Phe225=
XM_011529062.2:c.729C=
XP_011527364.1:p.Phe243=
XM_011529063.2:c.729C=
XP_011527365.1:p.Phe243=
XM_011529064.2:c.729C=
XP_011527366.1:p.Phe243=
XM_011529065.2:c.729C=
XP_011527367.1:p.Phe243=
XM_017028087.2:c.666C=
XP_016883576.1:p.Phe222=
XR_936641.2:n.852C=
NM_030777.4:c.666C=
MANE Select
NP_110404.1:p.Phe222=