Canonical Allele Identifier: CA11374761
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119782192C>A
GRCh37 chr3:g.119501039C>A
gnomAD v2:
3:119501039 C / A
gnomAD v3:
3:119782192 C / A
gnomAD v4:
chr3-119782192-C-A
Joint Max Group AF 0.75581758 (EAS)
Genomes Max Group AF 0.75742522 (EAS)
Exomes Max Group AF 0.46088155 (EAS)
dbSNP:
1523127
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119782192C>A , CM000665.2:g.119782192C>A GRCh38
NC_000003.11:g.119501039C>A , CM000665.1:g.119501039C>A GRCh37
NC_000003.10:g.120983729C>A NCBI36
NG_011856.1:g.6709C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.-131C>A MANE Select ENSP00000377319.3:n.-131C>A
ENST00000466380.6:c.-131C>A ENSP00000420297.2:n.-131C>A
ENST00000648112.1:c.*2-25037C>A ENSP00000497876.1:n.*2-25037C>A
ENST00000393716.6:c.-131C>A ENSP00000377319.2:n.-131C>A
ENST00000466380.5:c.-131C>A ENSP00000420297.1:n.-131C>A
ENST00000474090.1:n.158C>A
NM_003889.3:c.-131C>A NP_003880.3:n.-131C>A
NM_033013.2:c.-131C>A NP_148934.1:n.-131C>A
NM_003889.4:c.-131C>A MANE Select NP_003880.3:n.-131C>A
NM_033013.3:c.-131C>A NP_148934.1:n.-131C>A
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