Canonical Allele Identifier: CA354055835
Gene: NR1I2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807365C>A , CM000665.2:g.119807365C>A GRCh38
NC_000003.11:g.119526212C>A , CM000665.1:g.119526212C>A GRCh37
NC_000003.10:g.121008902C>A NCBI36
NG_011856.1:g.31882C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.115C>A MANE Select ENSP00000377319.3:p.Gln39Lys
ENST00000466380.6:c.115C>A ENSP00000420297.2:p.Gln39Lys
ENST00000648112.1:c.*138C>A ENSP00000497876.1:n.*138C>A
ENST00000337940.4:c.232C>A ENSP00000336528.4:p.Gln78Lys
ENST00000393716.6:c.115C>A ENSP00000377319.2:p.Gln39Lys
ENST00000466380.5:c.115C>A ENSP00000420297.1:p.Gln39Lys
ENST00000474090.1:n.403C>A
NM_003889.3:c.115C>A NP_003880.3:p.Gln39Lys
NM_022002.2:c.232C>A NP_071285.1:p.Gln78Lys
NM_033013.2:c.115C>A NP_148934.1:p.Gln39Lys
NM_003889.4:c.115C>A MANE Select NP_003880.3:p.Gln39Lys
NM_022002.3:c.232C>A NP_071285.1:p.Gln78Lys
NM_033013.3:c.115C>A NP_148934.1:p.Gln39Lys