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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_000006.12:g.98875551G>A , CM000668.2:g.98875551G>A
GRCh38
NC_000006.11:g.99323427G>A , CM000668.1:g.99323427G>A
GRCh37
NC_000006.10:g.99430148G>A
NCBI36
NG_033903.1:g.77456C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_001278716.2:c.1566C>T
MANE Select
NP_001265645.1:p.Thr522=
ENST00000369244.7:c.1566C>T
MANE Select
ENSP00000358247.1:p.Thr522=
NM_001278716.1:c.1566C>T
NP_001265645.1:p.Thr522=
NM_012160.4:c.1566C>T
NP_036292.2:p.Thr522=
NM_012160.5:c.1566C>T
NP_036292.2:p.Thr522=
NR_103836.1:n.1611C>T
NR_103836.2:n.1551C>T
ENST00000229971.2:c.1566C>T
ENSP00000229971.1:p.Thr522=
ENST00000369244.6:c.1566C>T
ENSP00000358247.1:p.Thr522=
XM_005266930.1:c.1494C>T
XP_005266987.1:p.Thr498=
XM_005266930.3:c.1494C>T
XP_005266987.1:p.Thr498=
XM_017010726.1:c.1566C>T
XP_016866215.1:p.Thr522=
XM_017010727.2:c.1494C>T
XP_016866216.1:p.Thr498=
XM_017010728.1:c.840C>T
XP_016866217.1:p.Thr280=