×
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_000004.12:g.139472880T>A , CM000666.2:g.139472880T>A
GRCh38
NC_000004.11:g.140394034T>A , CM000666.1:g.140394034T>A
GRCh37
NC_000004.10:g.140613484T>A
NCBI36
NG_051587.1:g.24649T>A
Transcript Alleles
HGVS
Amino-acid Change
NM_031296.3:c.444T>A
MANE Select
NP_112586.1:p.Asn148Lys
ENST00000305626.6:c.444T>A
MANE Select
ENSP00000306496.5:p.Asn148Lys
NM_031296.1:c.444T>A
NP_112586.1:p.Asn148Lys
NM_031296.2:c.444T>A
NP_112586.1:p.Asn148Lys
ENST00000305626.5:c.444T>A
ENSP00000306496.5:p.Asn148Lys
ENST00000652268.1:c.588T>A
ENSP00000498778.1:p.Asn196Lys
XM_011532299.1:c.588T>A
XP_011530601.1:p.Asn196Lys