Linked Data
ClinVar Variation Id:
5887
ClinVar RCV Id:
RCV000006245
dbSNP Id:
rs121908562
gnomAD v4:
6-43604646-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43604646G>T , CM000668.2:g.43604646G>T | GRCh38 |
| NC_000006.11:g.43572383G>T , CM000668.1:g.43572383G>T | GRCh37 |
| NC_000006.10:g.43680361G>T | NCBI36 |
| NG_009252.1:g.33506G>T , LRG_470:g.33506G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.916G>T (POLH) MANE Select | ENSP00000361310.4:p.Glu306Ter | |
| ENST00000372226.1:c.916G>T (POLH) | ENSP00000361300.1:p.Glu306Ter | |
| ENST00000372236.8:c.916G>T (POLH) | ENSP00000361310.4:p.Glu306Ter | |
| NM_001291969.1:c.544G>T (POLH) | NP_001278898.1:p.Glu182Ter | |
| NM_001291970.1:c.916G>T (POLH) | NP_001278899.1:p.Glu306Ter | |
| NM_006502.2:c.916G>T , LRG_470t1:c.916G>T (POLH) | NP_006493.1:p.Glu306Ter | |
| XM_005249186.2:c.730G>T (POLH) | XP_005249243.1:p.Glu244Ter | |
| XM_011514698.1:c.544G>T (POLH) | XP_011513000.1:p.Glu182Ter | |
| XM_005249186.4:c.730G>T (POLH) | XP_005249243.1:p.Glu244Ter | |
| XM_011514698.3:c.544G>T (POLH) | XP_011513000.1:p.Glu182Ter | |
| XM_024446466.1:c.664G>T (POLH) | XP_024302234.1:p.Glu222Ter | |
| XM_024446467.1:c.460G>T (POLH) | XP_024302235.1:p.Glu154Ter | |
| NM_001291969.2:c.544G>T (POLH) | NP_001278898.1:p.Glu182Ter | |
| NM_001291970.2:c.916G>T (POLH) | NP_001278899.1:p.Glu306Ter | |
| NM_006502.3:c.916G>T (POLH) MANE Select | NP_006493.1:p.Glu306Ter | |
| NM_001318876.2:c.945+75375G>T (POLR1C) | NP_001305805.1:n.945+75375G>T |