Canonical Allele Identifier: CA1396723555
Gene: NR1I2 HGNC NCBI

Linked Data

dbSNP Id: rs2055178968

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807470A>C , CM000665.2:g.119807470A>C GRCh38
NC_000003.11:g.119526317A>C , CM000665.1:g.119526317A>C GRCh37
NC_000003.10:g.121009007A>C NCBI36
NG_011856.1:g.31987A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.197+23A>C MANE Select ENSP00000377319.3:n.197+23A>C
ENST00000466380.6:c.197+23A>C ENSP00000420297.2:n.197+23A>C
ENST00000648112.1:c.*243A>C ENSP00000497876.1:n.*243A>C
ENST00000337940.4:c.314+23A>C ENSP00000336528.4:n.314+23A>C
ENST00000393716.6:c.197+23A>C ENSP00000377319.2:n.197+23A>C
ENST00000466380.5:c.197+23A>C ENSP00000420297.1:n.197+23A>C
ENST00000474090.1:n.485+23A>C
NM_003889.3:c.197+23A>C NP_003880.3:n.197+23A>C
NM_022002.2:c.314+23A>C NP_071285.1:n.314+23A>C
NM_033013.2:c.197+23A>C NP_148934.1:n.197+23A>C
NM_003889.4:c.197+23A>C MANE Select NP_003880.3:n.197+23A>C
NM_022002.3:c.314+23A>C NP_071285.1:n.314+23A>C
NM_033013.3:c.197+23A>C NP_148934.1:n.197+23A>C