Canonical Allele Identifier: CA824953551
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1194951548
gnomAD v3: 6-43769967-C-T
gnomAD v4: 6-43769967-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43769967C>T , CM000668.2:g.43769967C>T GRCh38
NC_000006.11:g.43737704C>T , CM000668.1:g.43737704C>T GRCh37
NC_000006.10:g.43845682C>T NCBI36
NG_008732.1:g.4752C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+240696C>T NP_001305805.1:n.945+240696C>T