×
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.29827120G>A , CM000668.2:g.29827120G>A
GRCh38
NC_000006.11:g.29794897G>A , CM000668.1:g.29794897G>A
GRCh37
NC_000006.10:g.29902876G>A
NCBI36
NG_029039.1:g.5142G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_001363567.1:c.6+76G>A
NP_001350496.1:n.6+76G>A
NM_001363567.2:c.6+76G>A
NP_001350496.1:n.6+76G>A
NM_001384280.1:c.6+76G>A
NP_001371209.1:n.6+76G>A
NM_002127.5:c.-113+76G>A
NP_002118.1:n.-113+76G>A
NM_002127.6:c.-113+76G>A
NP_002118.1:n.-113+76G>A
ENST00000376828.6:c.6+76G>A
ENSP00000366024.2:n.6+76G>A
ENST00000428701.5:c.-113+76G>A
ENSP00000412927.1:n.-113+76G>A
ENST00000428701.6:n.66+76G>A