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SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 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_000003.12:g.119780660T>G , CM000665.2:g.119780660T>G
GRCh38
NC_000003.11:g.119499507T>G , CM000665.1:g.119499507T>G
GRCh37
NC_000003.10:g.120982197T>G
NCBI36
NG_011856.1:g.5177T>G
Transcript Alleles
HGVS
Amino-acid Change
NM_003889.3:c.-1663T>G
NP_003880.3:n.-1663T>G
NM_033013.2:c.-1663T>G
NP_148934.1:n.-1663T>G
ENST00000393716.6:c.-1663T>G
ENSP00000377319.2:n.-1663T>G
ENST00000466380.5:c.-1663T>G
ENSP00000420297.1:n.-1663T>G
ENST00000466380.6:c.-1663T>G
ENSP00000420297.2:n.-1663T>G
ENST00000648112.1:c.*2-26569T>G
ENSP00000497876.1:n.*2-26569T>G