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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_000019.10:g.45406676G>T , CM000681.2:g.45406676G>T
GRCh38
NC_000019.9:g.45909934G>T , CM000681.1:g.45909934G>T
GRCh37
NC_000019.8:g.50601774G>T
NCBI36
NG_015839.2:g.77153C>A
Transcript Alleles
HGVS
Amino-acid Change
NM_012099.3:c.-21G>T
MANE Select
NP_036231.1:n.-21G>T
ENST00000309424.8:c.-21G>T
MANE Select
ENSP00000310966.3:n.-21G>T
NM_001297590.1:c.-21G>T
NP_001284519.1:n.-21G>T
NM_001297590.2:c.-21G>T
NP_001284519.1:n.-21G>T
NM_001297590.3:c.-21G>T
NP_001284519.1:n.-21G>T
NM_012099.1:c.-21G>T
NP_036231.1:n.-21G>T
NM_012099.2:c.-21G>T
NP_036231.1:n.-21G>T
ENST00000309424.7:c.-21G>T
ENSP00000310966.3:n.-21G>T
ENST00000592852.1:c.-930G>T
ENSP00000467771.1:n.-930G>T