Canonical Allele Identifier: CA2558103
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119815812C>T
GRCh37 chr3:g.119534659C>T
Revel Score:
ENST00000393716 (MANE Select) 0.628
ENST00000466380 0.628
ENST00000337940 0.628
gnomAD v2:
3:119534659 C / T
gnomAD v3:
3:119815812 C / T
gnomAD v4:
chr3-119815812-C-T
Joint Max Group AF 0.00043039 (MID)
Genomes Max Group AF 0.00006265 (AFR)
Exomes Max Group AF 0.00045316 (MID)
dbSNP:
72551375
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119815812C>T , CM000665.2:g.119815812C>T GRCh38
NC_000003.11:g.119534659C>T , CM000665.1:g.119534659C>T GRCh37
NC_000003.10:g.121017349C>T NCBI36
NG_011856.1:g.40329C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.1141C>T MANE Select ENSP00000377319.3:p.Arg381Trp
ENST00000466380.6:c.1030C>T ENSP00000420297.2:p.Arg344Trp
ENST00000337940.4:c.1258C>T ENSP00000336528.4:p.Arg420Trp
ENST00000393716.6:c.1141C>T ENSP00000377319.2:p.Arg381Trp
ENST00000466380.5:c.1030C>T ENSP00000420297.1:p.Arg344Trp
ENST00000493757.1:n.1273C>T
NM_003889.3:c.1141C>T NP_003880.3:p.Arg381Trp
NM_022002.2:c.1258C>T NP_071285.1:p.Arg420Trp
NM_033013.2:c.1030C>T NP_148934.1:p.Arg344Trp
NM_003889.4:c.1141C>T MANE Select NP_003880.3:p.Arg381Trp
NM_022002.3:c.1258C>T NP_071285.1:p.Arg420Trp
NM_033013.3:c.1030C>T NP_148934.1:p.Arg344Trp
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