Canonical Allele Identifier: CA12192505
Gene: POLR1C HGNC NCBI

Linked Data

ClinVar Variation Id: 1245515
ClinVar RCV Id: RCV001641838
dbSNP Id: rs13207351
gnomAD v2: 6-43737794-A-G
gnomAD v3: 6-43770057-A-G
gnomAD v4: 6-43770057-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770057A>G , CM000668.2:g.43770057A>G GRCh38
NC_000006.11:g.43737794A>G , CM000668.1:g.43737794A>G GRCh37
NC_000006.10:g.43845772A>G NCBI36
NG_008732.1:g.4842A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+240786A>G NP_001305805.1:n.945+240786A>G