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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_000018.10:g.63319604G>A , CM000680.2:g.63319604G>A
GRCh38
NC_000018.9:g.60986837G>A , CM000680.1:g.60986837G>A
GRCh37
NC_000018.8:g.59137817G>A
NCBI36
NG_009361.1:g.4777C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_000633.3:c.-717C>T
MANE Select
NP_000624.2:n.-717C>T
ENST00000333681.5:c.-717C>T
MANE Select
ENSP00000329623.3:n.-717C>T
NM_000657.3:c.-717C>T
NP_000648.2:n.-717C>T
ENST00000333681.4:c.-717C>T
ENSP00000329623.3:n.-717C>T
ENST00000398117.1:c.-938C>T
ENSP00000381185.1:n.-938C>T
XM_011526135.1:c.-938C>T
XP_011524437.1:n.-938C>T
XM_011526135.3:c.-938C>T
XP_011524437.1:n.-938C>T
XM_017025917.2:c.-717C>T
XP_016881406.1:n.-717C>T
XR_935246.1:n.175C>T
XR_935247.1:n.175C>T
XR_935248.1:n.175C>T
XR_935248.3:n.677C>T