×
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_000015.10:g.45104031A>T , CM000677.2:g.45104031A>T
GRCh38
NC_000015.9:g.45396229A>T , CM000677.1:g.45396229A>T
GRCh37
NC_000015.8:g.43183521A>T
NCBI36
NG_009447.1:g.15131T>A
Transcript Alleles
HGVS
Amino-acid Change
NM_001363711.2:c.2583T>A
MANE Select
NP_001350640.1:p.Arg861=
ENST00000389039.11:c.2583T>A
MANE Select
ENSP00000373691.7:p.Arg861=
NM_001363711.1:c.2583T>A
NP_001350640.1:p.Arg861=
NM_014080.4:c.2583T>A
NP_054799.4:p.Arg861=
NM_014080.5:c.2583T>A
NP_054799.4:p.Arg861=
ENST00000389039.10:c.2583T>A
ENSP00000373691.6:p.Arg861=
ENST00000558383.1:n.4314T>A
ENST00000603300.1:c.2583T>A
ENSP00000475084.1:p.Arg861=
XM_005254421.2:c.2583T>A
XP_005254478.1:p.Arg861=