Canonical Allele Identifier: CA6761905
Gene: POLR3B HGNC NCBI
gnomAD v2:
12:106821138 T / C
gnomAD v3:
12:106427360 T / C
gnomAD v4:
chr12-106427360-T-C
Joint Max Group AF 0.00007665 (NFE)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.00008135 (NFE)
ClinVar Allele:
482006
ClinVar RCV:
RCV000578741
RCV000763294
RCV001542054
ClinVar Variation:
488794
dbSNP:
774526181
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106427360T>C , CM000674.2:g.106427360T>C GRCh38
NC_000012.11:g.106821138T>C , CM000674.1:g.106821138T>C GRCh37
NC_000012.10:g.105345268T>C NCBI36
NG_031837.1:g.74703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228347.9:c.1263+2T>C MANE Select ENSP00000228347.4:n.1263+2T>C
ENST00000228347.8:c.1263+2T>C ENSP00000228347.4:n.1263+2T>C
ENST00000539066.5:c.1089+2T>C ENSP00000445721.1:n.1089+2T>C
NM_001160708.1:c.1089+2T>C NP_001154180.1:n.1089+2T>C
NM_018082.5:c.1263+2T>C NP_060552.4:n.1263+2T>C
XM_017019621.2:c.1263+2T>C XP_016875110.1:n.1263+2T>C
NM_018082.6:c.1263+2T>C MANE Select NP_060552.4:n.1263+2T>C
NM_001160708.2:c.1089+2T>C NP_001154180.1:n.1089+2T>C
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