×
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_000019.10:g.43733435G= , CM000681.2:g.43733435G=
GRCh38
NC_000019.9:g.44237587G= , CM000681.1:g.44237587G=
GRCh37
NC_000019.8:g.48929427G=
NCBI36
NG_051200.1:g.26602C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270066.11:c.1228C=
MANE Select
ENSP00000270066.6:p.Gln410=
ENST00000270066.10:c.1228C=
ENSP00000270066.6:p.Gln410=
ENST00000594081.1:n.472C=
ENST00000598860.1:n.563C=
ENST00000601170.5:c.1228C=
ENSP00000471398.1:p.Gln410=
NM_019108.2:c.1228C=
NP_061981.2:p.Gln410=
XM_005259057.2:c.1228C=
XP_005259114.1:p.Gln410=
XM_011527113.1:c.1228C=
XP_011525415.1:p.Gln410=
XM_011527114.1:c.1228C=
XP_011525416.1:p.Gln410=
XM_011527115.1:c.1228C=
XP_011525417.1:p.Gln410=
XM_011527116.1:c.1228C=
XP_011525418.1:p.Gln410=
XM_011527117.1:c.496C=
XP_011525419.1:p.Gln166=
NM_019108.3:c.1228C=
NP_061981.2:p.Gln410=
XM_005259057.3:c.1228C=
XP_005259114.1:p.Gln410=
XM_017026988.1:c.496C=
XP_016882477.1:p.Gln166=
XM_024451608.1:c.496C=
XP_024307376.1:p.Gln166=
NM_019108.4:c.1228C=
MANE Select
NP_061981.2:p.Gln410=