×
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_000012.12:g.71944848A>T , CM000674.2:g.71944848A>T
GRCh38
NC_000012.11:g.72338628A>T , CM000674.1:g.72338628A>T
GRCh37
NC_000012.10:g.70624895A>T
NCBI36
NG_008279.1:g.11003A>T
Transcript Alleles
HGVS
Amino-acid Change
NM_173353.4:c.540+162A>T
MANE Select
NP_775489.2:n.540+162A>T
ENST00000333850.4:c.540+162A>T
MANE Select
ENSP00000329093.3:n.540+162A>T
NM_173353.3:c.540+162A>T
NP_775489.2:n.540+162A>T
ENST00000333850.3:c.540+162A>T
ENSP00000329093.3:n.540+162A>T
ENST00000546576.1:n.550+162A>T
XR_001748575.1:n.640+162A>T
XR_245894.2:n.640+162A>T