Canonical Allele Identifier: CA15264748
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119780660T>C
GRCh37 chr3:g.119499507T>C
gnomAD v2:
3:119499507 T / C
gnomAD v3:
3:119780660 T / C
gnomAD v4:
chr3-119780660-T-C
Joint Max Group AF 0.75673675 (EAS)
Genomes Max Group AF 0.7568395 (EAS)
Exomes Max Group AF 0.2227344 (NFE)
dbSNP:
1523130
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119780660T>C , CM000665.2:g.119780660T>C GRCh38
NC_000003.11:g.119499507T>C , CM000665.1:g.119499507T>C GRCh37
NC_000003.10:g.120982197T>C NCBI36
NG_011856.1:g.5177T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000466380.6:c.-1663T>C ENSP00000420297.2:n.-1663T>C
ENST00000648112.1:c.*2-26569T>C ENSP00000497876.1:n.*2-26569T>C
ENST00000393716.6:c.-1663T>C ENSP00000377319.2:n.-1663T>C
ENST00000466380.5:c.-1663T>C ENSP00000420297.1:n.-1663T>C
NM_003889.3:c.-1663T>C NP_003880.3:n.-1663T>C
NM_033013.2:c.-1663T>C NP_148934.1:n.-1663T>C
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