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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_000009.12:g.100272996G>A , CM000671.2:g.100272996G>A
GRCh38
NC_000009.11:g.103035278G>A , CM000671.1:g.103035278G>A
GRCh37
NC_000009.10:g.102075099G>A
NCBI36
NG_008316.1:g.178768G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_014425.5:c.1704G>A
MANE Select
NP_055240.2:p.Gly568=
ENST00000262457.7:c.1704G>A
MANE Select
ENSP00000262457.2:p.Gly568=
NM_001318381.1:c.1416G>A
NP_001305310.1:p.Gly472=
NM_001318381.2:c.1416G>A
NP_001305310.1:p.Gly472=
NM_001318382.1:c.726G>A
NP_001305311.1:p.Gly242=
NM_001318382.2:c.726G>A
NP_001305311.1:p.Gly242=
NM_014425.3:c.1704G>A
NP_055240.2:p.Gly568=
NM_014425.4:c.1704G>A
NP_055240.2:p.Gly568=
NM_183245.2:c.1704G>A
NP_899068.1:p.Gly568=
NR_051962.1:n.2013G>A
NR_134606.1:n.1960G>A
NR_134606.2:n.1902G>A
ENST00000262456.6:c.1704G>A
ENSP00000262456.2:p.Gly568=
ENST00000262457.6:c.1704G>A
ENSP00000262457.2:p.Gly568=
XM_005251923.3:c.1704G>A
XP_005251980.1:p.Gly568=
XM_005251924.3:c.1416G>A
XP_005251981.1:p.Gly472=
XM_011518531.1:c.1704G>A
XP_011516833.1:p.Gly568=
XM_011518532.1:c.1704G>A
XP_011516834.1:p.Gly568=
XM_011518533.1:c.1704G>A
XP_011516835.1:p.Gly568=
XM_011518534.1:c.1416G>A
XP_011516836.1:p.Gly472=
XM_011518535.1:c.1416G>A
XP_011516837.1:p.Gly472=
XM_011518536.1:c.1416G>A
XP_011516838.1:p.Gly472=
XM_011518537.1:c.1416G>A
XP_011516839.1:p.Gly472=
XM_011518538.1:c.1416G>A
XP_011516840.1:p.Gly472=
XM_011518539.1:c.1383G>A
XP_011516841.1:p.Gly461=
XM_011518540.1:c.1383G>A
XP_011516842.1:p.Gly461=
XM_011518541.1:c.1383G>A
XP_011516843.1:p.Gly461=
XM_011518542.1:c.1416G>A
XP_011516844.1:p.Gly472=
XM_011518543.1:c.726G>A
XP_011516845.1:p.Gly242=
XM_011518544.1:c.726G>A
XP_011516846.1:p.Gly242=
XR_242585.1:n.1960G>A
XR_242586.1:n.1960G>A
XR_428522.1:n.1960G>A