Canonical Allele Identifier: CA3366963
Gene: NREP HGNC NCBI
NREP-AS1 HGNC NCBI
COSMIC:
COSM448429
MyVariant.info:
GRCh38 chr5:g.111975374C>T
GRCh37 chr5:g.111311071C>T
Revel Score:
ENST00000395634 0.085
gnomAD v2:
5:111311071 C / T
gnomAD v3:
5:111975374 C / T
gnomAD v4:
chr5-111975374-C-T
Joint Max Group AF 0.00034196 (AFR)
Genomes Max Group AF 0.00035884 (AFR)
Exomes Max Group AF 0.00021846 (AFR)
ClinVar RCV:
RCV004240578
ClinVar Variation:
2401003
dbSNP:
756211201
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.111975374C>T , CM000667.2:g.111975374C>T GRCh38
NC_000005.9:g.111311071C>T , CM000667.1:g.111311071C>T GRCh37
NC_000005.8:g.111338970C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395634.7:c.35G>A (NREP) ENSP00000378996.3:p.Arg12Gln
ENST00000450761.6:c.-59+21950G>A (NREP) ENSP00000416617.2:n.-59+21950G>A
NM_001142474.1:c.35G>A (NREP) NP_001135946.1:p.Arg12Gln
NM_001142475.1:c.35G>A (NREP) NP_001135947.1:p.Arg12Gln
NR_046678.1:n.443+868C>T (NREP-AS1)
NM_001142474.2:c.35G>A (NREP) NP_001135946.1:p.Arg12Gln
NM_001142475.2:c.35G>A (NREP) NP_001135947.1:p.Arg12Gln
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