Canonical Allele Identifier: CA435219551
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526232G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807385G>T , CM000665.2:g.119807385G>T GRCh38
NC_000003.11:g.119526232G>T , CM000665.1:g.119526232G>T GRCh37
NC_000003.10:g.121008922G>T NCBI36
NG_011856.1:g.31902G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.135G>T MANE Select ENSP00000377319.3:p.Gly45=
ENST00000466380.6:c.135G>T ENSP00000420297.2:p.Gly45=
ENST00000648112.1:c.*158G>T ENSP00000497876.1:n.*158G>T
ENST00000337940.4:c.252G>T ENSP00000336528.4:p.Gly84=
ENST00000393716.6:c.135G>T ENSP00000377319.2:p.Gly45=
ENST00000466380.5:c.135G>T ENSP00000420297.1:p.Gly45=
ENST00000474090.1:n.423G>T
NM_003889.3:c.135G>T NP_003880.3:p.Gly45=
NM_022002.2:c.252G>T NP_071285.1:p.Gly84=
NM_033013.2:c.135G>T NP_148934.1:p.Gly45=
NM_003889.4:c.135G>T MANE Select NP_003880.3:p.Gly45=
NM_022002.3:c.252G>T NP_071285.1:p.Gly84=
NM_033013.3:c.135G>T NP_148934.1:p.Gly45=