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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_000004.12:g.186265981C>G , CM000666.2:g.186265981C>G
GRCh38
NC_000004.11:g.187187135C>G , CM000666.1:g.187187135C>G
GRCh37
NC_000004.10:g.187424129C>G
NCBI36
NG_008051.1:g.5018C>G , LRG_583:g.5018C>G
Transcript Alleles
HGVS
Amino-acid Change
NM_000128.3:c.-316C>G , LRG_583t1:c.-316C>G
NP_000119.1:n.-316C>G
NM_001354804.1:c.-316C>G
NP_001341733.1:n.-316C>G
ENST00000403665.6:c.-316C>G
ENSP00000384957.2:n.-316C>G
XM_005262821.2:c.-316C>G
XP_005262878.1:n.-316C>G
XM_005262821.4:c.-316C>G
XP_005262878.1:n.-316C>G
XM_005262822.2:c.-316C>G
XP_005262879.1:n.-316C>G
XM_005262822.4:c.-316C>G
XP_005262879.1:n.-316C>G
XM_005262823.2:c.-316C>G
XP_005262880.1:n.-316C>G
XM_005262823.4:c.-316C>G
XP_005262880.1:n.-316C>G
XM_005262824.1:c.-316C>G
XP_005262881.1:n.-316C>G
XM_006714137.1:c.-316C>G
XP_006714200.1:n.-316C>G
XM_006714137.3:c.-316C>G
XP_006714200.1:n.-316C>G
XM_017007884.2:c.-316C>G
XP_016863373.1:n.-316C>G
XM_017007885.2:c.-316C>G
XP_016863374.1:n.-316C>G
XM_017007886.2:c.-316C>G
XP_016863375.1:n.-316C>G
XR_001741172.2:n.18C>G
XR_938706.1:n.37C>G
XR_938707.1:n.37C>G