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SERVICES INTERRUPTION2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500 Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71942014A>G , CM000674.2:g.71942014A>G
GRCh38
NC_000012.11:g.72335794A>G , CM000674.1:g.72335794A>G
GRCh37
NC_000012.10:g.70622061A>G
NCBI36
NG_008279.1:g.8169A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_173353.4:c.255+281A>G
MANE Select
NP_775489.2:n.255+281A>G
ENST00000333850.4:c.255+281A>G
MANE Select
ENSP00000329093.3:n.255+281A>G
NM_173353.3:c.255+281A>G
NP_775489.2:n.255+281A>G
ENST00000333850.3:c.255+281A>G
ENSP00000329093.3:n.255+281A>G
ENST00000546576.1:n.265+281A>G
XR_001748575.1:n.355+281A>G
XR_245894.2:n.355+281A>G