Canonical Allele Identifier: CA138345574
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs969063449
gnomAD v2: 6-43737788-T-C
gnomAD v3: 6-43770051-T-C
gnomAD v4: 6-43770051-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770051T>C , CM000668.2:g.43770051T>C GRCh38
NC_000006.11:g.43737788T>C , CM000668.1:g.43737788T>C GRCh37
NC_000006.10:g.43845766T>C NCBI36
NG_008732.1:g.4836T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+240780T>C NP_001305805.1:n.945+240780T>C