×
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_000005.10:g.149895263T= , CM000667.2:g.149895263T=
GRCh38
NC_000005.9:g.149274826T= , CM000667.1:g.149274826T=
GRCh37
NC_000005.8:g.149255019T=
NCBI36
NG_009102.1:g.54531A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000255266.10:c.1648A=
MANE Select
ENSP00000255266.5:p.Ser550=
ENST00000255266.9:c.1648A=
ENSP00000255266.5:p.Ser550=
ENST00000508173.5:n.1832A=
ENST00000613228.1:c.1405A=
ENSP00000478060.1:p.Ser469=
ENST00000617647.4:c.1405A=
ENSP00000482774.1:p.Ser469=
NM_000440.2:c.1648A=
NP_000431.2:p.Ser550=
XM_011537648.1:c.1648A=
XP_011535950.1:p.Ser550=
XM_011537649.1:c.1102A=
XP_011535951.1:p.Ser368=
XM_011537650.1:c.763A=
XP_011535952.1:p.Ser255=
XM_011537651.1:c.601A=
XP_011535953.1:p.Ser201=
XM_011537652.1:c.571A=
XP_011535954.1:p.Ser191=
XM_011537653.1:c.571A=
XP_011535955.1:p.Ser191=
XM_011537654.1:c.571A=
XP_011535956.1:p.Ser191=
XM_011537650.2:c.763A=
XP_011535952.1:p.Ser255=
XM_011537651.2:c.601A=
XP_011535953.1:p.Ser201=
XM_011537653.2:c.571A=
XP_011535955.1:p.Ser191=
XM_011537654.2:c.571A=
XP_011535956.1:p.Ser191=
XM_017009572.2:c.1405A=
XP_016865061.1:p.Ser469=
NM_000440.3:c.1648A=
MANE Select
NP_000431.2:p.Ser550=