Canonical Allele Identifier: CA354057591

Gene: NR1I2

Linked Data

• dbSNP Id: rs1413944791
• gnomAD v3: 3-119811541-A-G
• gnomAD v4: 3-119811541-A-G
• MyVariant Identifiers: chr3:g.119530388A>G (hg19) ; chr3:g.119811541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811541A>G , CM000665.2:g.119811541A>G	GRCh38
NC_000003.11:g.119530388A>G , CM000665.1:g.119530388A>G	GRCh37
NC_000003.10:g.121013078A>G	NCBI36
NG_011856.1:g.36058A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.334A>G MANE Select	ENSP00000377319.3:p.Ile112Val
ENST00000466380.6:c.334A>G	ENSP00000420297.2:p.Ile112Val
ENST00000337940.4:c.451A>G	ENSP00000336528.4:p.Ile151Val
ENST00000393716.6:c.334A>G	ENSP00000377319.2:p.Ile112Val
ENST00000466380.5:c.334A>G	ENSP00000420297.1:p.Ile112Val
ENST00000493757.1:n.466A>G
NM_003889.3:c.334A>G	NP_003880.3:p.Ile112Val
NM_022002.2:c.451A>G	NP_071285.1:p.Ile151Val
NM_033013.2:c.334A>G	NP_148934.1:p.Ile112Val
NM_003889.4:c.334A>G MANE Select	NP_003880.3:p.Ile112Val
NM_022002.3:c.451A>G	NP_071285.1:p.Ile151Val
NM_033013.3:c.334A>G	NP_148934.1:p.Ile112Val