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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_000019.10:g.40845362C>T , CM000681.2:g.40845362C>T
GRCh38
NC_000019.9:g.41351267C>T , CM000681.1:g.41351267C>T
GRCh37
NC_000019.8:g.46043107C>T
NCBI36
NG_008377.1:g.10086G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000762.6:c.1093G>A
MANE Select
NP_000753.3:p.Val365Met
ENST00000301141.10:c.1093G>A
MANE Select
ENSP00000301141.4:p.Val365Met
NM_000762.5:c.1093G>A
NP_000753.3:p.Val365Met
ENST00000301141.9:c.1093G>A
ENSP00000301141.4:p.Val365Met
ENST00000596719.5:n.944G>A
ENST00000601627.1:c.119+43947C>T
ENST00000610301.1:c.1093G>A
ENSP00000477899.1:p.Val365Met