Canonical Allele Identifier: CA1396728704
Gene: NR1I2 HGNC NCBI

Linked Data

dbSNP Id: rs2055358721

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119818387T>C , CM000665.2:g.119818387T>C GRCh38
NC_000003.11:g.119537234T>C , CM000665.1:g.119537234T>C GRCh37
NC_000003.10:g.121019924T>C NCBI36
NG_011856.1:g.42904T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.*1175T>C MANE Select ENSP00000377319.3:n.*1175T>C
ENST00000466380.6:c.*1175T>C ENSP00000420297.2:n.*1175T>C
ENST00000337940.4:c.*1175T>C ENSP00000336528.4:n.*1175T>C
ENST00000393716.6:c.*1175T>C ENSP00000377319.2:n.*1175T>C
ENST00000466380.5:c.*1175T>C ENSP00000420297.1:n.*1175T>C
ENST00000493757.1:n.2612T>C
NM_003889.3:c.*1175T>C NP_003880.3:n.*1175T>C
NM_022002.2:c.*1175T>C NP_071285.1:n.*1175T>C
NM_033013.2:c.*1175T>C NP_148934.1:n.*1175T>C
NM_003889.4:c.*1175T>C MANE Select NP_003880.3:n.*1175T>C
NM_022002.3:c.*1175T>C NP_071285.1:n.*1175T>C
NM_033013.3:c.*1175T>C NP_148934.1:n.*1175T>C