Canonical Allele Identifier: CA354055797
Gene: NR1I2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807353G>A , CM000665.2:g.119807353G>A GRCh38
NC_000003.11:g.119526200G>A , CM000665.1:g.119526200G>A GRCh37
NC_000003.10:g.121008890G>A NCBI36
NG_011856.1:g.31870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.103G>A MANE Select ENSP00000377319.3:p.Val35Ile
ENST00000466380.6:c.103G>A ENSP00000420297.2:p.Val35Ile
ENST00000648112.1:c.*126G>A ENSP00000497876.1:n.*126G>A
ENST00000337940.4:c.220G>A ENSP00000336528.4:p.Val74Ile
ENST00000393716.6:c.103G>A ENSP00000377319.2:p.Val35Ile
ENST00000466380.5:c.103G>A ENSP00000420297.1:p.Val35Ile
ENST00000474090.1:n.391G>A
NM_003889.3:c.103G>A NP_003880.3:p.Val35Ile
NM_022002.2:c.220G>A NP_071285.1:p.Val74Ile
NM_033013.2:c.103G>A NP_148934.1:p.Val35Ile
NM_003889.4:c.103G>A MANE Select NP_003880.3:p.Val35Ile
NM_022002.3:c.220G>A NP_071285.1:p.Val74Ile
NM_033013.3:c.103G>A NP_148934.1:p.Val35Ile