Canonical Allele Identifier: CA435219592

Gene: NR1I2

Linked Data

• dbSNP Id: rs1464163029
• gnomAD v3: 3-119807430-A-T
• gnomAD v4: 3-119807430-A-T
• MyVariant Identifiers: chr3:g.119526277A>T (hg19) ; chr3:g.119807430A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807430A>T , CM000665.2:g.119807430A>T	GRCh38
NC_000003.11:g.119526277A>T , CM000665.1:g.119526277A>T	GRCh37
NC_000003.10:g.121008967A>T	NCBI36
NG_011856.1:g.31947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.180A>T MANE Select	ENSP00000377319.3:p.Gly60=
ENST00000466380.6:c.180A>T	ENSP00000420297.2:p.Gly60=
ENST00000648112.1:c.*203A>T	ENSP00000497876.1:n.*203A>T
ENST00000337940.4:c.297A>T	ENSP00000336528.4:p.Gly99=
ENST00000393716.6:c.180A>T	ENSP00000377319.2:p.Gly60=
ENST00000466380.5:c.180A>T	ENSP00000420297.1:p.Gly60=
ENST00000474090.1:n.468A>T
NM_003889.3:c.180A>T	NP_003880.3:p.Gly60=
NM_022002.2:c.297A>T	NP_071285.1:p.Gly99=
NM_033013.2:c.180A>T	NP_148934.1:p.Gly60=
NM_003889.4:c.180A>T MANE Select	NP_003880.3:p.Gly60=
NM_022002.3:c.297A>T	NP_071285.1:p.Gly99=
NM_033013.3:c.180A>T	NP_148934.1:p.Gly60=