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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.171117382T>C , CM000663.2:g.171117382T>C
GRCh38
NC_000001.10:g.171086522T>C , CM000663.1:g.171086522T>C
GRCh37
NC_000001.9:g.169353146T>C
NCBI36
NG_012690.1:g.31505T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_001002294.3:c.1539T>C
MANE Select
NP_001002294.1:p.His513=
ENST00000367755.9:c.1539T>C
MANE Select
ENSP00000356729.4:p.His513=
NM_001002294.2:c.1539T>C
NP_001002294.1:p.His513=
NM_001319173.1:c.1479T>C
NP_001306102.1:p.His493=
NM_001319173.2:c.1479T>C
NP_001306102.1:p.His493=
NM_001319174.1:c.1350T>C
NP_001306103.1:p.His450=
NM_001319174.2:c.1350T>C
NP_001306103.1:p.His450=
NM_006894.5:c.1539T>C
NP_008825.4:p.His513=
NM_006894.6:c.1539T>C
NP_008825.4:p.His513=
ENST00000367755.8:c.1539T>C
ENSP00000356729.4:p.His513=
XM_005245044.1:c.1350T>C
XP_005245101.1:p.His450=
XM_011509345.1:c.1479T>C
XP_011507647.1:p.His493=
XM_011509345.3:c.1479T>C
XP_011507647.1:p.His493=
XM_011509346.1:c.1479T>C
XP_011507648.1:p.His493=
XM_024454365.1:c.792T>C
XP_024310133.1:p.His264=