Linked Data
ClinVar Variation Id:
264680
dbSNP Id:
rs745778317
ExAC:
6:43568789 C / G
gnomAD v2:
6-43568789-C-G
gnomAD v4:
6-43601052-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43601052C>G , CM000668.2:g.43601052C>G | GRCh38 |
| NC_000006.11:g.43568789C>G , CM000668.1:g.43568789C>G | GRCh37 |
| NC_000006.10:g.43676767C>G | NCBI36 |
| NG_009252.1:g.29912C>G , LRG_470:g.29912C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.725C>G (POLH) MANE Select | ENSP00000361310.4:p.Ser242Ter | |
| ENST00000372226.1:c.725C>G (POLH) | ENSP00000361300.1:p.Ser242Ter | |
| ENST00000372236.8:c.725C>G (POLH) | ENSP00000361310.4:p.Ser242Ter | |
| NM_001291969.1:c.353C>G (POLH) | NP_001278898.1:p.Ser118Ter | |
| NM_001291970.1:c.725C>G (POLH) | NP_001278899.1:p.Ser242Ter | |
| NM_006502.2:c.725C>G , LRG_470t1:c.725C>G (POLH) | NP_006493.1:p.Ser242Ter | |
| XM_005249186.2:c.539C>G (POLH) | XP_005249243.1:p.Ser180Ter | |
| XM_011514698.1:c.353C>G (POLH) | XP_011513000.1:p.Ser118Ter | |
| XM_005249186.4:c.539C>G (POLH) | XP_005249243.1:p.Ser180Ter | |
| XM_011514698.3:c.353C>G (POLH) | XP_011513000.1:p.Ser118Ter | |
| XM_024446466.1:c.473C>G (POLH) | XP_024302234.1:p.Ser158Ter | |
| XM_024446467.1:c.269C>G (POLH) | XP_024302235.1:p.Ser90Ter | |
| NM_001291969.2:c.353C>G (POLH) | NP_001278898.1:p.Ser118Ter | |
| NM_001291970.2:c.725C>G (POLH) | NP_001278899.1:p.Ser242Ter | |
| NM_006502.3:c.725C>G (POLH) MANE Select | NP_006493.1:p.Ser242Ter | |
| NM_001318876.2:c.945+71781C>G (POLR1C) | NP_001305805.1:n.945+71781C>G |