Canonical Allele Identifier: CA2557835
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119811572G>T
GRCh37 chr3:g.119530419G>T
Revel Score:
ENST00000393716 (MANE Select) 0.718
ENST00000466380 0.718
ENST00000337940 0.718
gnomAD v2:
3:119530419 G / T
gnomAD v4:
chr3-119811572-G-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
dbSNP:
12721608
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119811572G>T , CM000665.2:g.119811572G>T GRCh38
NC_000003.11:g.119530419G>T , CM000665.1:g.119530419G>T GRCh37
NC_000003.10:g.121013109G>T NCBI36
NG_011856.1:g.36089G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.365G>T MANE Select ENSP00000377319.3:p.Arg122Leu
ENST00000466380.6:c.365G>T ENSP00000420297.2:p.Arg122Leu
ENST00000337940.4:c.482G>T ENSP00000336528.4:p.Arg161Leu
ENST00000393716.6:c.365G>T ENSP00000377319.2:p.Arg122Leu
ENST00000466380.5:c.365G>T ENSP00000420297.1:p.Arg122Leu
ENST00000493757.1:n.497G>T
NM_003889.3:c.365G>T NP_003880.3:p.Arg122Leu
NM_022002.2:c.482G>T NP_071285.1:p.Arg161Leu
NM_033013.2:c.365G>T NP_148934.1:p.Arg122Leu
NM_003889.4:c.365G>T MANE Select NP_003880.3:p.Arg122Leu
NM_022002.3:c.482G>T NP_071285.1:p.Arg161Leu
NM_033013.3:c.365G>T NP_148934.1:p.Arg122Leu
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