Canonical Allele Identifier: CA248434
Gene: POLR1C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.43858890C>T
GRCh37 chr6:g.43826627C>T
gnomAD v2:
6:43826627 C / T
gnomAD v3:
6:43858890 C / T
gnomAD v4:
chr6-43858890-C-T
Joint Max Group AF 0.79352968 (AFR)
Genomes Max Group AF 0.79352968 (AFR)
ClinVar RCV:
RCV000190304
ClinVar Variation:
162168
dbSNP:
943080
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43858890C>T , CM000668.2:g.43858890C>T GRCh38
NC_000006.11:g.43826627C>T , CM000668.1:g.43826627C>T GRCh37
NC_000006.10:g.43934605C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001744131.1:n.2589+16257C>T
NM_001318876.2:c.945+329619C>T NP_001305805.1:n.945+329619C>T
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