Canonical Allele Identifier: CA2740092079
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2947831
ClinVar RCV Id: RCV003804461
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308189C>A , CM000685.2:g.30308189C>A GRCh38
NC_000023.10:g.30326306C>A , CM000685.1:g.30326306C>A GRCh37
NC_000023.9:g.30236227C>A NCBI36
NG_009814.1:g.6190G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+7G>T MANE Select ENSP00000368253.4:n.1168+7G>T
ENST00000378963.1:c.283+7G>T ENSP00000368246.1:n.283+7G>T
ENST00000378970.4:c.1168+7G>T ENSP00000368253.4:n.1168+7G>T
NM_000475.4:c.1168+7G>T NP_000466.2:n.1168+7G>T
NM_000475.5:c.1168+7G>T MANE Select NP_000466.2:n.1168+7G>T
Search 100 bp 5'
Search 100 bp 3'