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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.98905593C>T , CM000668.2:g.98905593C>T
GRCh38
NC_000006.11:g.99353469C>T , CM000668.1:g.99353469C>T
GRCh37
NC_000006.10:g.99460190C>T
NCBI36
NG_033903.1:g.47414G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_001278716.2:c.936G>A
MANE Select
NP_001265645.1:p.Gln312=
ENST00000369244.7:c.936G>A
MANE Select
ENSP00000358247.1:p.Gln312=
NM_001278716.1:c.936G>A
NP_001265645.1:p.Gln312=
NM_012160.4:c.936G>A
NP_036292.2:p.Gln312=
NM_012160.5:c.936G>A
NP_036292.2:p.Gln312=
NR_103836.1:n.981G>A
NR_103836.2:n.921G>A
NR_103837.1:n.981G>A
NR_103837.2:n.921G>A
ENST00000229971.2:c.936G>A
ENSP00000229971.1:p.Gln312=
ENST00000369244.6:c.936G>A
ENSP00000358247.1:p.Gln312=
XM_005266930.1:c.936G>A
XP_005266987.1:p.Gln312=
XM_005266930.3:c.936G>A
XP_005266987.1:p.Gln312=
XM_011535748.1:c.936G>A
XP_011534050.1:p.Gln312=
XM_011535748.3:c.936G>A
XP_011534050.1:p.Gln312=
XM_017010726.1:c.936G>A
XP_016866215.1:p.Gln312=
XM_017010727.2:c.936G>A
XP_016866216.1:p.Gln312=
XM_017010728.1:c.210G>A
XP_016866217.1:p.Gln70=