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INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500 We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.23279411C>T , CM000675.2:g.23279411C>T
GRCh38
NC_000013.10:g.23853550C>T , CM000675.1:g.23853550C>T
GRCh37
NC_000013.9:g.22751550C>T
NCBI36
NG_008759.1:g.103491C>T , LRG_207:g.103491C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_000231.3:c.438C>T
MANE Select
NP_000222.2:p.Asp146=
ENST00000218867.4:c.438C>T
MANE Select
ENSP00000218867.3:p.Asp146=
NM_000231.2:c.438C>T , LRG_207t1:c.438C>T
NP_000222.1:p.Asp146=
NM_001378244.1:c.492C>T
NP_001365173.1:p.Asp164=
NM_001378245.1:c.438C>T
NP_001365174.1:p.Asp146=
NM_001378246.1:c.438C>T
NP_001365175.1:p.Asp146=
ENST00000218867.3:c.438C>T
ENSP00000218867.3:p.Asp146=
XM_005266505.2:c.438C>T
XP_005266562.1:p.Asp146=
XM_006719861.2:c.492C>T
XP_006719924.1:p.Asp164=
XM_006719861.3:c.492C>T
XP_006719924.1:p.Asp164=
XM_024449397.1:c.438C>T
XP_024305165.1:p.Asp146=