Revel Score:
ENST00000372236 (MANE Select)
0.192
ENST00000535400
0.192
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01835471 (EAS)
Genomes Max Group AF
0.00665649 (EAS)
Exomes Max Group AF
0.01965328 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43614018A>G , CM000668.2:g.43614018A>G | GRCh38 |
| NC_000006.11:g.43581755A>G , CM000668.1:g.43581755A>G | GRCh37 |
| NC_000006.10:g.43689733A>G | NCBI36 |
| NG_009252.1:g.42878A>G , LRG_470:g.42878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.1603A>G (POLH) MANE Select | ENSP00000361310.4:p.Lys535Glu | |
| ENST00000372226.1:c.*287A>G (POLH) | ENSP00000361300.1:n.*287A>G | |
| ENST00000372236.8:c.1603A>G (POLH) | ENSP00000361310.4:p.Lys535Glu | |
| ENST00000496137.5:c.449+6101T>C (GTPBP2) | ENSP00000436973.1:n.449+6101T>C | |
| NM_001291969.1:c.1231A>G (POLH) | NP_001278898.1:p.Lys411Glu | |
| NM_001291970.1:c.*287A>G (POLH) | NP_001278899.1:n.*287A>G | |
| NM_006502.2:c.1603A>G , LRG_470t1:c.1603A>G (POLH) | NP_006493.1:p.Lys535Glu | |
| XM_005249186.2:c.1417A>G (POLH) | XP_005249243.1:p.Lys473Glu | |
| XM_011514698.1:c.1231A>G (POLH) | XP_011513000.1:p.Lys411Glu | |
| XM_005249186.4:c.1417A>G (POLH) | XP_005249243.1:p.Lys473Glu | |
| XM_011514698.3:c.1231A>G (POLH) | XP_011513000.1:p.Lys411Glu | |
| XM_024446466.1:c.1351A>G (POLH) | XP_024302234.1:p.Lys451Glu | |
| XM_024446467.1:c.1147A>G (POLH) | XP_024302235.1:p.Lys383Glu | |
| NM_001291969.2:c.1231A>G (POLH) | NP_001278898.1:p.Lys411Glu | |
| NM_001291970.2:c.*287A>G (POLH) | NP_001278899.1:n.*287A>G | |
| NM_006502.3:c.1603A>G (POLH) MANE Select | NP_006493.1:p.Lys535Glu | |
| NM_001318876.2:c.945+84747A>G (POLR1C) | NP_001305805.1:n.945+84747A>G |