×
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_000001.11:g.183207997G>A , CM000663.2:g.183207997G>A
GRCh38
NC_000001.10:g.183177132G>A , CM000663.1:g.183177132G>A
GRCh37
NC_000001.9:g.181443755G>A
NCBI36
NG_007079.2:g.26734G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_005562.3:c.196G>A
MANE Select
NP_005553.2:p.Glu66Lys
ENST00000264144.5:c.196G>A
MANE Select
ENSP00000264144.4:p.Glu66Lys
NM_005562.2:c.196G>A
NP_005553.2:p.Glu66Lys
NM_018891.2:c.196G>A
NP_061486.2:p.Glu66Lys
NM_018891.3:c.196G>A
NP_061486.2:p.Glu66Lys
ENST00000264144.4:c.196G>A
ENSP00000264144.4:p.Glu66Lys
ENST00000493293.5:c.196G>A
ENSP00000432063.1:p.Glu66Lys
XM_017001273.2:c.196G>A
XP_016856762.1:p.Glu66Lys