×
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.119033250C= , CM000663.2:g.119033250C=
GRCh38
NC_000001.10:g.119575873C= , CM000663.1:g.119575873C=
GRCh37
NC_000001.9:g.119377396C=
NCBI36
NG_050658.1:g.112539G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000235521.5:c.744G=
MANE Select
ENSP00000235521.4:p.Val248=
ENST00000235521.4:c.744G=
ENSP00000235521.4:p.Val248=
ENST00000369426.9:c.*110G=
ENSP00000358434.5:n.*110G=
NM_015836.3:c.744G=
NP_056651.1:p.Val248=
NM_201263.2:c.*110G=
NP_957715.1:n.*110G=
XM_005270350.2:c.690G=
XP_005270407.1:p.Val230=
XM_006710283.1:c.462G=
XP_006710346.1:p.Val154=
XM_011540493.1:c.675G=
XP_011538795.1:p.Val225=
XM_011540494.1:c.675G=
XP_011538796.1:p.Val225=
XM_011540495.1:c.486G=
XP_011538797.1:p.Val162=
XM_005270350.3:c.690G=
XP_005270407.1:p.Val230=
XM_011540494.2:c.675G=
XP_011538796.1:p.Val225=
XM_011540495.2:c.486G=
XP_011538797.1:p.Val162=
XM_017000038.1:c.687G=
XP_016855527.1:p.Val229=
XM_017000039.1:c.675G=
XP_016855528.1:p.Val225=
XM_017000040.1:c.573G=
XP_016855529.1:p.Val191=
XM_017000041.2:c.405G=
XP_016855530.1:p.Val135=
XM_017000042.1:c.*79G=
XP_016855531.1:n.*79G=
XM_024449826.1:c.675G=
XP_024305594.1:p.Val225=
XM_024449860.1:c.462G=
XP_024305628.1:p.Val154=
XM_024449871.1:c.462G=
XP_024305639.1:p.Val154=
NM_001378226.1:c.675G=
NP_001365155.1:p.Val225=
NM_001378227.1:c.675G=
NP_001365156.1:p.Val225=
NM_001378228.1:c.573G=
NP_001365157.1:p.Val191=
NM_001378229.1:c.486G=
NP_001365158.1:p.Val162=
NM_001378230.1:c.462G=
NP_001365159.1:p.Val154=
NM_001378231.1:c.*79G=
NP_001365160.1:n.*79G=
NM_015836.4:c.744G=
MANE Select
NP_056651.1:p.Val248=