Canonical Allele Identifier: CA81750757

Gene: NR1I2

Linked Data

• dbSNP Id: rs781531379
• gnomAD v2: 3-119526144-A-T
• gnomAD v3: 3-119807297-A-T
• gnomAD v4: 3-119807297-A-T
• MyVariant Identifiers: chr3:g.119526144A>T (hg19) ; chr3:g.119807297A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807297A>T , CM000665.2:g.119807297A>T	GRCh38
NC_000003.11:g.119526144A>T , CM000665.1:g.119526144A>T	GRCh37
NC_000003.10:g.121008834A>T	NCBI36
NG_011856.1:g.31814A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.47A>T MANE Select	ENSP00000377319.3:p.His16Leu
ENST00000466380.6:c.47A>T	ENSP00000420297.2:p.His16Leu
ENST00000648112.1:c.*70A>T	ENSP00000497876.1:n.*70A>T
ENST00000337940.4:c.164A>T	ENSP00000336528.4:p.His55Leu
ENST00000393716.6:c.47A>T	ENSP00000377319.2:p.His16Leu
ENST00000466380.5:c.47A>T	ENSP00000420297.1:p.His16Leu
ENST00000474090.1:n.335A>T
NM_003889.3:c.47A>T	NP_003880.3:p.His16Leu
NM_022002.2:c.164A>T	NP_071285.1:p.His55Leu
NM_033013.2:c.47A>T	NP_148934.1:p.His16Leu
NM_003889.4:c.47A>T MANE Select	NP_003880.3:p.His16Leu
NM_022002.3:c.164A>T	NP_071285.1:p.His55Leu
NM_033013.3:c.47A>T	NP_148934.1:p.His16Leu