Canonical Allele Identifier: CA824995369
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1229764647
gnomAD v3: 6-44313433-C-G
gnomAD v4: 6-44313433-C-G
MyVariant Identifiers: chr6:g.44281170C>G (hg19) chr6:g.44313433C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313433C>G , CM000668.2:g.44313433C>G GRCh38
NC_000006.11:g.44281170C>G , CM000668.1:g.44281170C>G GRCh37
NC_000006.10:g.44389148C>G NCBI36
NG_031952.1:g.4894G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5791C>G
NM_001318876.2:c.946-128457C>G NP_001305805.1:n.946-128457C>G
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