Canonical Allele Identifier: CA343328

Gene: POLR3B

Linked Data

• ClinVar Variation Id: 31166
• ClinVar RCV Id: RCV000032280 ; RCV000442312 ; RCV000763295 ; RCV001095758 ; RCV001192673 ; RCV001849282 ; RCV002251926 ; RCV002285009 ; RCV003334378 ; RCV004549388
• dbSNP Id: rs138249161
• ExAC: 12:106826199 T / A
• gnomAD v2: 12-106826199-T-A
• gnomAD v3: 12-106432421-T-A
• gnomAD v4: 12-106432421-T-A
• MyVariant Identifiers: chr12:g.106826199T>A (hg19) ; chr12:g.106432421T>A (hg38)
• PubMed: PMID:22036172 ; PMID:22855961

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.106432421T>A , CM000674.2:g.106432421T>A	GRCh38
NC_000012.11:g.106826199T>A , CM000674.1:g.106826199T>A	GRCh37
NC_000012.10:g.105350329T>A	NCBI36
NG_031837.1:g.79764T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228347.9:c.1568T>A MANE Select	ENSP00000228347.4:p.Val523Glu
ENST00000228347.8:c.1568T>A	ENSP00000228347.4:p.Val523Glu
ENST00000539066.5:c.1394T>A	ENSP00000445721.1:p.Val465Glu
NM_001160708.1:c.1394T>A	NP_001154180.1:p.Val465Glu
NM_018082.5:c.1568T>A	NP_060552.4:p.Val523Glu
XM_017019621.2:c.1568T>A	XP_016875110.1:p.Val523Glu
NM_018082.6:c.1568T>A MANE Select	NP_060552.4:p.Val523Glu
NM_001160708.2:c.1394T>A	NP_001154180.1:p.Val465Glu