Canonical Allele Identifier: CA515946458
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2937727
ClinVar RCV Id: RCV003794357
dbSNP Id: rs895635508
gnomAD v2: X-30326827-C-G
MyVariant Identifiers: chrX:g.30326827C>G (hg19) chrX:g.30308710C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308710C>G , CM000685.2:g.30308710C>G GRCh38
NC_000023.10:g.30326827C>G , CM000685.1:g.30326827C>G GRCh37
NC_000023.9:g.30236748C>G NCBI36
NG_009814.1:g.5669G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.654G>C MANE Select ENSP00000368253.4:p.Thr218=
ENST00000378970.4:c.654G>C ENSP00000368253.4:p.Thr218=
NM_000475.4:c.654G>C NP_000466.2:p.Thr218=
NM_000475.5:c.654G>C MANE Select NP_000466.2:p.Thr218=
Search 100 bp 5'
Search 100 bp 3'