Canonical Allele Identifier: CA81754847
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119818407A>C
GRCh37 chr3:g.119537254A>C
gnomAD v2:
3:119537254 A / C
gnomAD v3:
3:119818407 A / C
gnomAD v4:
chr3-119818407-A-C
Joint Max Group AF 0.47292257 (EAS)
Genomes Max Group AF 0.46865953 (EAS)
Exomes Max Group AF 0.46703813 (EAS)
dbSNP:
3814057
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119818407A>C , CM000665.2:g.119818407A>C GRCh38
NC_000003.11:g.119537254A>C , CM000665.1:g.119537254A>C GRCh37
NC_000003.10:g.121019944A>C NCBI36
NG_011856.1:g.42924A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.*1195A>C MANE Select ENSP00000377319.3:n.*1195A>C
ENST00000466380.6:c.*1195A>C ENSP00000420297.2:n.*1195A>C
ENST00000337940.4:c.*1195A>C ENSP00000336528.4:n.*1195A>C
ENST00000393716.6:c.*1195A>C ENSP00000377319.2:n.*1195A>C
ENST00000466380.5:c.*1195A>C ENSP00000420297.1:n.*1195A>C
ENST00000493757.1:n.2632A>C
NM_003889.3:c.*1195A>C NP_003880.3:n.*1195A>C
NM_022002.2:c.*1195A>C NP_071285.1:n.*1195A>C
NM_033013.2:c.*1195A>C NP_148934.1:n.*1195A>C
NM_003889.4:c.*1195A>C MANE Select NP_003880.3:n.*1195A>C
NM_022002.3:c.*1195A>C NP_071285.1:n.*1195A>C
NM_033013.3:c.*1195A>C NP_148934.1:n.*1195A>C
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