Canonical Allele Identifier: CA6761899
Gene: POLR3B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.106427339T>C
GRCh37 chr12:g.106821117T>C
Revel Score:
ENST00000228347 (MANE Select) 0.816
ENST00000551370 0.816
ENST00000539066 0.816
gnomAD v2:
12:106821117 T / C
gnomAD v3:
12:106427339 T / C
gnomAD v4:
chr12-106427339-T-C
Joint Max Group AF 0.00109863 (NFE)
Genomes Max Group AF 0.00111558 (NFE)
Exomes Max Group AF 0.00108585 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106427339T>C , CM000674.2:g.106427339T>C GRCh38
NC_000012.11:g.106821117T>C , CM000674.1:g.106821117T>C GRCh37
NC_000012.10:g.105345247T>C NCBI36
NG_031837.1:g.74682T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228347.9:c.1244T>C MANE Select ENSP00000228347.4:p.Met415Thr
ENST00000228347.8:c.1244T>C ENSP00000228347.4:p.Met415Thr
ENST00000539066.5:c.1070T>C ENSP00000445721.1:p.Met357Thr
NM_001160708.1:c.1070T>C NP_001154180.1:p.Met357Thr
NM_018082.5:c.1244T>C NP_060552.4:p.Met415Thr
XM_017019621.2:c.1244T>C XP_016875110.1:p.Met415Thr
NM_018082.6:c.1244T>C MANE Select NP_060552.4:p.Met415Thr
NM_001160708.2:c.1070T>C NP_001154180.1:p.Met357Thr
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