Canonical Allele Identifier: CA11417350
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119817871C>T
GRCh37 chr3:g.119536718C>T
gnomAD v2:
3:119536718 C / T
gnomAD v3:
3:119817871 C / T
gnomAD v4:
chr3-119817871-C-T
Joint Max Group AF 0.12430282 (NFE)
Genomes Max Group AF 0.11880287 (NFE)
Exomes Max Group AF 0.12462835 (NFE)
dbSNP:
1054190
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119817871C>T , CM000665.2:g.119817871C>T GRCh38
NC_000003.11:g.119536718C>T , CM000665.1:g.119536718C>T GRCh37
NC_000003.10:g.121019408C>T NCBI36
NG_011856.1:g.42388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.*659C>T MANE Select ENSP00000377319.3:n.*659C>T
ENST00000466380.6:c.*659C>T ENSP00000420297.2:n.*659C>T
ENST00000337940.4:c.*659C>T ENSP00000336528.4:n.*659C>T
ENST00000393716.6:c.*659C>T ENSP00000377319.2:n.*659C>T
ENST00000466380.5:c.*659C>T ENSP00000420297.1:n.*659C>T
ENST00000493757.1:n.2096C>T
NM_003889.3:c.*659C>T NP_003880.3:n.*659C>T
NM_022002.2:c.*659C>T NP_071285.1:n.*659C>T
NM_033013.2:c.*659C>T NP_148934.1:n.*659C>T
NM_003889.4:c.*659C>T MANE Select NP_003880.3:n.*659C>T
NM_022002.3:c.*659C>T NP_071285.1:n.*659C>T
NM_033013.3:c.*659C>T NP_148934.1:n.*659C>T
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