×
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_000004.12:g.154569627G= , CM000666.2:g.154569627G=
GRCh38
NC_000004.11:g.155490779G= , CM000666.1:g.155490779G=
GRCh37
NC_000004.10:g.155710229G=
NCBI36
NG_008833.1:g.11648G= , LRG_558:g.11648G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000302068.9:c.1072G=
MANE Select
ENSP00000306099.4:p.Gly358=
ENST00000302068.8:c.1072G=
ENSP00000306099.4:p.Gly358=
ENST00000502545.5:n.939+320G=
ENST00000509493.1:c.415G=
ENSP00000426757.1:p.Gly139=
NM_001184741.1:c.895G=
NP_001171670.1:p.Gly299=
NM_005141.4:c.1072G= , LRG_558t1:c.1072G=
NP_005132.2:p.Gly358=
NM_001382759.1:c.940G=
NP_001369688.1:p.Gly314=
NM_001382760.1:c.1072G=
NP_001369689.1:p.Gly358=
NM_001382761.1:c.1072G=
NP_001369690.1:p.Gly358=
NM_001382762.1:c.772G=
NP_001369691.1:p.Gly258=
NM_001382763.1:c.1063G=
NP_001369692.1:p.Gly355=
NM_001382764.1:c.1072G=
NP_001369693.1:p.Gly358=
NM_001382765.1:c.1072G=
NP_001369694.1:p.Gly358=
NM_005141.5:c.1072G=
MANE Select
NP_005132.2:p.Gly358=