Canonical Allele Identifier: CA386392634
Gene: POLR3B HGNC NCBI

Linked Data

ClinVar Variation Id: 375867
ClinVar RCV Id: RCV000498916
dbSNP Id: rs775141057
MyVariant Identifiers: chr12:g.106889893C>A (hg19) chr12:g.106496115C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106496115C>A , CM000674.2:g.106496115C>A GRCh38
NC_000012.11:g.106889893C>A , CM000674.1:g.106889893C>A GRCh37
NC_000012.10:g.105414023C>A NCBI36
NG_031837.1:g.143458C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228347.9:c.2774C>A MANE Select ENSP00000228347.4:p.Pro925Gln
ENST00000228347.8:c.2774C>A ENSP00000228347.4:p.Pro925Gln
ENST00000539066.5:c.2600C>A ENSP00000445721.1:p.Pro867Gln
NM_001160708.1:c.2600C>A NP_001154180.1:p.Pro867Gln
NM_018082.5:c.2774C>A NP_060552.4:p.Pro925Gln
XM_017019621.2:c.2774C>A XP_016875110.1:p.Pro925Gln
NM_018082.6:c.2774C>A MANE Select NP_060552.4:p.Pro925Gln
NM_001160708.2:c.2600C>A NP_001154180.1:p.Pro867Gln
Search 100 bp 5'
Search 100 bp 3'