Canonical Allele Identifier: CA255638
Gene: NR0B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10971
ClinVar RCV Id: RCV000011718
dbSNP Id: rs104894899

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308222A>T , CM000685.2:g.30308222A>T GRCh38
NC_000023.10:g.30326339A>T , CM000685.1:g.30326339A>T GRCh37
NC_000023.9:g.30236260A>T NCBI36
NG_009814.1:g.6157T>A

Transcript Alleles

HGVS Amino-acid change
NM_000475.4:c.1142T>A VV NP_000466.2:p.Leu381His
ENST00000378963.1:c.257T>A ENSP00000368246.1:p.Leu86His
ENST00000378970.4:c.1142T>A ENSP00000368253.4:p.Leu381His