Canonical Allele Identifier: CA12235226
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs543844
gnomAD v2: 6-44424800-A-G
gnomAD v3: 6-44457063-A-G
gnomAD v4: 6-44457063-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44457063A>G , CM000668.2:g.44457063A>G GRCh38
NC_000006.11:g.44424800A>G , CM000668.1:g.44424800A>G GRCh37
NC_000006.10:g.44532778A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001318876.2:c.970-4257A>G NP_001305805.1:n.970-4257A>G