Canonical Allele Identifier: CA327976047
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs918925037
gnomAD v3: X-30308629-C-G
gnomAD v4: X-30308629-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308629C>G , CM000685.2:g.30308629C>G GRCh38
NC_000023.10:g.30326746C>G , CM000685.1:g.30326746C>G GRCh37
NC_000023.9:g.30236667C>G NCBI36
NG_009814.1:g.5750G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.735G>C MANE Select ENSP00000368253.4:p.Pro245=
ENST00000378970.4:c.735G>C ENSP00000368253.4:p.Pro245=
NM_000475.4:c.735G>C NP_000466.2:p.Pro245=
NM_000475.5:c.735G>C MANE Select NP_000466.2:p.Pro245=