Canonical Allele Identifier: CA566819316
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs1375893446
gnomAD v2: 6-43737796-C-T
gnomAD v3: 6-43770059-C-T
gnomAD v4: 6-43770059-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770059C>T , CM000668.2:g.43770059C>T GRCh38
NC_000006.11:g.43737796C>T , CM000668.1:g.43737796C>T GRCh37
NC_000006.10:g.43845774C>T NCBI36
NG_008732.1:g.4844C>T

Transcript Alleles

HGVS Amino-acid change
NM_001318876.2:c.945+240788C>T NP_001305805.1:n.945+240788C>T