×
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_000010.11:g.94947714G>A , CM000672.2:g.94947714G>A
GRCh38
NC_000010.10:g.96707471G>A , CM000672.1:g.96707471G>A
GRCh37
NC_000010.9:g.96697461G>A
NCBI36
NG_008385.1:g.14057G>A
NG_008385.2:g.14557G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000771.4:c.482-65G>A
MANE Select
NP_000762.2:n.482-65G>A
ENST00000260682.8:c.482-65G>A
MANE Select
ENSP00000260682.6:n.482-65G>A
NM_000771.3:c.482-65G>A
NP_000762.2:n.482-65G>A
ENST00000260682.6:c.482-65G>A
ENSP00000260682.6:n.482-65G>A
ENST00000473496.1:n.253-65G>A
ENST00000643112.1:c.482-65G>A
ENSP00000496202.1:n.482-65G>A
ENST00000645207.1:n.635-65G>A