Canonical Allele Identifier: CA138340982
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs757410254
gnomAD v3: 6-43762112-T-C
gnomAD v4: 6-43762112-T-C
MyVariant Identifiers: chr6:g.43729849T>C (hg19) chr6:g.43762112T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43762112T>C , CM000668.2:g.43762112T>C GRCh38
NC_000006.11:g.43729849T>C , CM000668.1:g.43729849T>C GRCh37
NC_000006.10:g.43837827T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+232841T>C NP_001305805.1:n.945+232841T>C
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