×
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_000012.12:g.110339577A>G , CM000674.2:g.110339577A>G
GRCh38
NC_000012.11:g.110777382A>G , CM000674.1:g.110777382A>G
GRCh37
NC_000012.10:g.109261765A>G
NCBI36
NG_007097.2:g.62951A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539276.7:c.1617A>G
MANE Select
ENSP00000440045.2:p.Gly539=
ENST00000308664.10:c.1617A>G
ENSP00000311186.6:p.Gly539=
ENST00000377685.9:c.*1457A>G
ENSP00000366913.4:n.*1457A>G
ENST00000539276.6:c.1617A>G
ENSP00000440045.2:p.Gly539=
ENST00000548169.2:c.1288A>G
NM_001681.3:c.1617A>G
NP_001672.1:p.Gly539=
NM_170665.3:c.1617A>G
NP_733765.1:p.Gly539=
XM_005253888.1:c.1617A>G
XP_005253945.1:p.Gly539=
XM_011538402.1:c.1617A>G
XP_011536704.1:p.Gly539=
XM_011538403.1:c.1617A>G
XP_011536705.1:p.Gly539=
XR_243009.1:n.1623A>G
XM_005253888.3:c.1617A>G
XP_005253945.1:p.Gly539=
XM_011538402.3:c.1617A>G
XP_011536704.1:p.Gly539=
XR_002957329.1:n.1623A>G
XR_243009.3:n.1623A>G
NM_170665.4:c.1617A>G
MANE Select
NP_733765.1:p.Gly539=
NM_001681.4:c.1617A>G
NP_001672.1:p.Gly539=