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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_000001.11:g.169556860T>C , CM000663.2:g.169556860T>C
GRCh38
NC_000001.10:g.169526098T>C , CM000663.1:g.169526098T>C
GRCh37
NC_000001.9:g.167792722T>C
NCBI36
NG_011806.1:g.34672A>G , LRG_553:g.34672A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_000130.5:c.738A>G
MANE Select
NP_000121.2:p.Thr246=
ENST00000367797.9:c.738A>G
MANE Select
ENSP00000356771.3:p.Thr246=
NM_000130.4:c.738A>G , LRG_553t1:c.738A>G
NP_000121.2:p.Thr246=
ENST00000367796.3:c.738A>G
ENSP00000356770.3:p.Thr246=
ENST00000367797.7:c.738A>G
ENSP00000356771.3:p.Thr246=
XM_017000660.2:c.327A>G
XP_016856149.1:p.Thr109=