×
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.186284211T= , CM000666.2:g.186284211T=
GRCh38
NC_000004.11:g.187205365T= , CM000666.1:g.187205365T=
GRCh37
NC_000004.10:g.187442359T=
NCBI36
NG_008051.1:g.23248T= , LRG_583:g.23248T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000403665.7:c.1255T=
MANE Select
ENSP00000384957.2:p.Ser419=
ENST00000264692.8:c.1093T=
ENSP00000264692.5:p.Ser365=
ENST00000403665.6:c.1255T=
ENSP00000384957.2:p.Ser419=
NM_000128.3:c.1255T= , LRG_583t1:c.1255T=
NP_000119.1:p.Ser419=
XM_005262821.2:c.1258T=
XP_005262878.1:p.Ser420=
XM_005262822.2:c.1258T=
XP_005262879.1:p.Ser420=
XM_005262823.2:c.988T=
XP_005262880.1:p.Ser330=
XM_005262824.1:c.1258T=
XP_005262881.1:p.Ser420=
XM_006714137.1:c.1210T=
XP_006714200.1:p.Ser404=
XR_938706.1:n.1663T=
XR_938707.1:n.1663T=
XM_005262821.4:c.1258T=
XP_005262878.1:p.Ser420=
XM_005262822.4:c.1258T=
XP_005262879.1:p.Ser420=
XM_005262823.4:c.988T=
XP_005262880.1:p.Ser330=
XM_006714137.3:c.1210T=
XP_006714200.1:p.Ser404=
XR_001741172.2:n.1729T=
NM_000128.4:c.1255T=
MANE Select
NP_000119.1:p.Ser419=