Linked Data
ClinVar Variation Id:
224063
dbSNP Id:
rs759607901
ExAC:
6:43572374 C / T
gnomAD v2:
6-43572374-C-T
gnomAD v3:
6-43604637-C-T
gnomAD v4:
6-43604637-C-T
PubMed:
PMID:24130121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43604637C>T , CM000668.2:g.43604637C>T | GRCh38 |
| NC_000006.11:g.43572374C>T , CM000668.1:g.43572374C>T | GRCh37 |
| NC_000006.10:g.43680352C>T | NCBI36 |
| NG_009252.1:g.33497C>T , LRG_470:g.33497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.907C>T (POLH) MANE Select | ENSP00000361310.4:p.Arg303Ter | |
| ENST00000372226.1:c.907C>T (POLH) | ENSP00000361300.1:p.Arg303Ter | |
| ENST00000372236.8:c.907C>T (POLH) | ENSP00000361310.4:p.Arg303Ter | |
| NM_001291969.1:c.535C>T (POLH) | NP_001278898.1:p.Arg179Ter | |
| NM_001291970.1:c.907C>T (POLH) | NP_001278899.1:p.Arg303Ter | |
| NM_006502.2:c.907C>T , LRG_470t1:c.907C>T (POLH) | NP_006493.1:p.Arg303Ter | |
| XM_005249186.2:c.721C>T (POLH) | XP_005249243.1:p.Arg241Ter | |
| XM_011514698.1:c.535C>T (POLH) | XP_011513000.1:p.Arg179Ter | |
| XM_005249186.4:c.721C>T (POLH) | XP_005249243.1:p.Arg241Ter | |
| XM_011514698.3:c.535C>T (POLH) | XP_011513000.1:p.Arg179Ter | |
| XM_024446466.1:c.655C>T (POLH) | XP_024302234.1:p.Arg219Ter | |
| XM_024446467.1:c.451C>T (POLH) | XP_024302235.1:p.Arg151Ter | |
| NM_001291969.2:c.535C>T (POLH) | NP_001278898.1:p.Arg179Ter | |
| NM_001291970.2:c.907C>T (POLH) | NP_001278899.1:p.Arg303Ter | |
| NM_006502.3:c.907C>T (POLH) MANE Select | NP_006493.1:p.Arg303Ter | |
| NM_001318876.2:c.945+75366C>T (POLR1C) | NP_001305805.1:n.945+75366C>T |