Canonical Allele Identifier: CA412548141
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1207705997
gnomAD v2: X-30326816-T-C
gnomAD v4: X-30308699-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308699T>C , CM000685.2:g.30308699T>C GRCh38
NC_000023.10:g.30326816T>C , CM000685.1:g.30326816T>C GRCh37
NC_000023.9:g.30236737T>C NCBI36
NG_009814.1:g.5680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.665A>G MANE Select ENSP00000368253.4:p.Gln222Arg
ENST00000378970.4:c.665A>G ENSP00000368253.4:p.Gln222Arg
NM_000475.4:c.665A>G NP_000466.2:p.Gln222Arg
NM_000475.5:c.665A>G MANE Select NP_000466.2:p.Gln222Arg