Canonical Allele Identifier: CA2557714

Gene: NR1I2

Linked Data

• dbSNP Id: rs143921735
• ExAC: 3:119526120 G / C
• gnomAD v2: 3-119526120-G-C
• gnomAD v3: 3-119807273-G-C
• gnomAD v4: 3-119807273-G-C
• MyVariant Identifiers: chr3:g.119526120G>C (hg19) ; chr3:g.119807273G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807273G>C , CM000665.2:g.119807273G>C	GRCh38
NC_000003.11:g.119526120G>C , CM000665.1:g.119526120G>C	GRCh37
NC_000003.10:g.121008810G>C	NCBI36
NG_011856.1:g.31790G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.23G>C MANE Select	ENSP00000377319.3:p.Ser8Thr
ENST00000466380.6:c.23G>C	ENSP00000420297.2:p.Ser8Thr
ENST00000648112.1:c.*46G>C	ENSP00000497876.1:n.*46G>C
ENST00000337940.4:c.140G>C	ENSP00000336528.4:p.Ser47Thr
ENST00000393716.6:c.23G>C	ENSP00000377319.2:p.Ser8Thr
ENST00000466380.5:c.23G>C	ENSP00000420297.1:p.Ser8Thr
ENST00000474090.1:n.311G>C
NM_003889.3:c.23G>C	NP_003880.3:p.Ser8Thr
NM_022002.2:c.140G>C	NP_071285.1:p.Ser47Thr
NM_033013.2:c.23G>C	NP_148934.1:p.Ser8Thr
NM_003889.4:c.23G>C MANE Select	NP_003880.3:p.Ser8Thr
NM_022002.3:c.140G>C	NP_071285.1:p.Ser47Thr
NM_033013.3:c.23G>C	NP_148934.1:p.Ser8Thr