Canonical Allele Identifier: CA121982
Gene: POLR1C HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.43768652A>C
GRCh37 chr6:g.43736389A>C
gnomAD v2:
6:43736389 A / C
gnomAD v3:
6:43768652 A / C
gnomAD v4:
chr6-43768652-A-C
Joint Max Group AF 0.78161619 (AFR)
Genomes Max Group AF 0.78161619 (AFR)
ClinVar Allele:
27263
ClinVar RCV:
RCV000013008
ClinVar Variation:
12224
dbSNP:
699947
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43768652A>C , CM000668.2:g.43768652A>C GRCh38
NC_000006.11:g.43736389A>C , CM000668.1:g.43736389A>C GRCh37
NC_000006.10:g.43844367A>C NCBI36
NG_008732.1:g.3437A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+239381A>C NP_001305805.1:n.945+239381A>C
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