Canonical Allele Identifier: CA567154607
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1450428813
gnomAD v2: 6-44281132-G-C
gnomAD v3: 6-44313395-G-C
gnomAD v4: 6-44313395-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44313395G>C , CM000668.2:g.44313395G>C GRCh38
NC_000006.11:g.44281132G>C , CM000668.1:g.44281132G>C GRCh37
NC_000006.10:g.44389110G>C NCBI36
NG_031952.1:g.4932C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505802.1:c.855+5753G>C
NM_001318876.2:c.946-128495G>C NP_001305805.1:n.946-128495G>C