×
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.119033164G= , CM000663.2:g.119033164G=
GRCh38
NC_000001.10:g.119575787G= , CM000663.1:g.119575787G=
GRCh37
NC_000001.9:g.119377310G=
NCBI36
NG_050658.1:g.112625C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000235521.5:c.830C=
MANE Select
ENSP00000235521.4:p.Ala277=
ENST00000235521.4:c.830C=
ENSP00000235521.4:p.Ala277=
ENST00000369426.9:c.*196C=
ENSP00000358434.5:n.*196C=
NM_015836.3:c.830C=
NP_056651.1:p.Ala277=
NM_201263.2:c.*196C=
NP_957715.1:n.*196C=
XM_005270350.2:c.776C=
XP_005270407.1:p.Ala259=
XM_006710283.1:c.548C=
XP_006710346.1:p.Ala183=
XM_011540493.1:c.761C=
XP_011538795.1:p.Ala254=
XM_011540494.1:c.761C=
XP_011538796.1:p.Ala254=
XM_011540495.1:c.572C=
XP_011538797.1:p.Ala191=
XM_005270350.3:c.776C=
XP_005270407.1:p.Ala259=
XM_011540494.2:c.761C=
XP_011538796.1:p.Ala254=
XM_011540495.2:c.572C=
XP_011538797.1:p.Ala191=
XM_017000038.1:c.773C=
XP_016855527.1:p.Ala258=
XM_017000039.1:c.761C=
XP_016855528.1:p.Ala254=
XM_017000040.1:c.659C=
XP_016855529.1:p.Ala220=
XM_017000041.2:c.491C=
XP_016855530.1:p.Ala164=
XM_017000042.1:c.*165C=
XP_016855531.1:n.*165C=
XM_024449826.1:c.761C=
XP_024305594.1:p.Ala254=
XM_024449860.1:c.548C=
XP_024305628.1:p.Ala183=
XM_024449871.1:c.548C=
XP_024305639.1:p.Ala183=
NM_001378226.1:c.761C=
NP_001365155.1:p.Ala254=
NM_001378227.1:c.761C=
NP_001365156.1:p.Ala254=
NM_001378228.1:c.659C=
NP_001365157.1:p.Ala220=
NM_001378229.1:c.572C=
NP_001365158.1:p.Ala191=
NM_001378230.1:c.548C=
NP_001365159.1:p.Ala183=
NM_001378231.1:c.*165C=
NP_001365160.1:n.*165C=
NM_015836.4:c.830C=
MANE Select
NP_056651.1:p.Ala277=