×
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.98874415A>G , CM000668.2:g.98874415A>G
GRCh38
NC_000006.11:g.99322291A>G , CM000668.1:g.99322291A>G
GRCh37
NC_000006.10:g.99429012A>G
NCBI36
NG_033903.1:g.78592T>C
Transcript Alleles
HGVS
Amino-acid Change
NM_001278716.2:c.1729T>C
MANE Select
NP_001265645.1:p.Leu577=
ENST00000369244.7:c.1729T>C
MANE Select
ENSP00000358247.1:p.Leu577=
NM_001278716.1:c.1729T>C
NP_001265645.1:p.Leu577=
NM_012160.4:c.1729T>C
NP_036292.2:p.Leu577=
NM_012160.5:c.1729T>C
NP_036292.2:p.Leu577=
NR_103836.1:n.1774T>C
NR_103836.2:n.1714T>C
ENST00000229971.2:c.1729T>C
ENSP00000229971.1:p.Leu577=
ENST00000369244.6:c.1729T>C
ENSP00000358247.1:p.Leu577=
XM_005266930.1:c.1657T>C
XP_005266987.1:p.Leu553=
XM_005266930.3:c.1657T>C
XP_005266987.1:p.Leu553=
XM_017010726.1:c.1729T>C
XP_016866215.1:p.Leu577=
XM_017010727.2:c.1657T>C
XP_016866216.1:p.Leu553=
XM_017010728.1:c.1003T>C
XP_016866217.1:p.Leu335=