Canonical Allele Identifier: CA566818402
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1318778841
gnomAD v2: 6-43729631-G-T
gnomAD v3: 6-43761894-G-T
gnomAD v4: 6-43761894-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43761894G>T , CM000668.2:g.43761894G>T GRCh38
NC_000006.11:g.43729631G>T , CM000668.1:g.43729631G>T GRCh37
NC_000006.10:g.43837609G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001318876.2:c.945+232623G>T NP_001305805.1:n.945+232623G>T