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SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500 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. This migration is underway but taking longer than originally estimated.
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.11885958C>T , CM000674.2:g.11885958C>T
GRCh38
NC_000012.11:g.12038892C>T , CM000674.1:g.12038892C>T
GRCh37
NC_000012.10:g.11930159C>T
NCBI36
NG_011443.1:g.241105C>T , LRG_609:g.241105C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396373.9:c.1185C>T
MANE Select
ENSP00000379658.3:p.Ser395=
ENST00000266427.3:c.22C>T
ENST00000396373.8:c.1185C>T
ENSP00000379658.3:p.Ser395=
NM_001987.4:c.1185C>T , LRG_609t1:c.1185C>T
NP_001978.1:p.Ser395=
XM_011520607.1:c.1182C>T
XP_011518909.1:p.Ser394=
XM_011520608.1:c.1158C>T
XP_011518910.1:p.Ser386=
XM_011520609.1:c.921C>T
XP_011518911.1:p.Ser307=
XM_011520610.1:c.921C>T
XP_011518912.1:p.Ser307=
XM_011520611.1:c.921C>T
XP_011518913.1:p.Ser307=
XM_011520612.1:c.564C>T
XP_011518914.1:p.Ser188=
XM_011520607.2:c.1182C>T
XP_011518909.1:p.Ser394=
XM_011520608.2:c.1158C>T
XP_011518910.1:p.Ser386=
XM_011520609.2:c.921C>T
XP_011518911.1:p.Ser307=
XM_011520611.2:c.921C>T
XP_011518913.1:p.Ser307=
XM_011520612.2:c.564C>T
XP_011518914.1:p.Ser188=
XM_017018990.1:c.1050C>T
XP_016874479.1:p.Ser350=
XM_017018991.1:c.921C>T
XP_016874480.1:p.Ser307=
NM_001987.5:c.1185C>T
MANE Select
NP_001978.1:p.Ser395=