Canonical Allele Identifier: CA138345614
Gene: POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs36208384
gnomAD v2: 6-43737909-C-T
gnomAD v3: 6-43770172-C-T
gnomAD v4: 6-43770172-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43770172C>T , CM000668.2:g.43770172C>T GRCh38
NC_000006.11:g.43737909C>T , CM000668.1:g.43737909C>T GRCh37
NC_000006.10:g.43845887C>T NCBI36
NG_008732.1:g.4957C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001318876.2:c.945+240901C>T NP_001305805.1:n.945+240901C>T