Canonical Allele Identifier: CA566818418
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1431966045
gnomAD v2: 6-43729825-C-T
gnomAD v3: 6-43762088-C-T
gnomAD v4: 6-43762088-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43762088C>T , CM000668.2:g.43762088C>T GRCh38
NC_000006.11:g.43729825C>T , CM000668.1:g.43729825C>T GRCh37
NC_000006.10:g.43837803C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+232817C>T NP_001305805.1:n.945+232817C>T