Linked Data
ClinVar Variation Id:
356906
dbSNP Id:
rs765856970
ExAC:
6:43573063 T / G
gnomAD v2:
6-43573063-T-G
gnomAD v4:
6-43605326-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43605326T>G , CM000668.2:g.43605326T>G | GRCh38 |
| NC_000006.11:g.43573063T>G , CM000668.1:g.43573063T>G | GRCh37 |
| NC_000006.10:g.43681041T>G | NCBI36 |
| NG_009252.1:g.34186T>G , LRG_470:g.34186T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.1074+7T>G (POLH) MANE Select | ENSP00000361310.4:n.1074+7T>G | |
| ENST00000372226.1:c.1074+7T>G (POLH) | ENSP00000361300.1:n.1074+7T>G | |
| ENST00000372236.8:c.1074+7T>G (POLH) | ENSP00000361310.4:n.1074+7T>G | |
| ENST00000496137.5:c.506A>C (GTPBP2) | ENSP00000436973.1:n.506A>C | |
| NM_001291969.1:c.702+7T>G (POLH) | NP_001278898.1:n.702+7T>G | |
| NM_001291970.1:c.1074+7T>G (POLH) | NP_001278899.1:n.1074+7T>G | |
| NM_006502.2:c.1074+7T>G , LRG_470t1:c.1074+7T>G (POLH) | NP_006493.1:n.1074+7T>G | |
| XM_005249186.2:c.888+7T>G (POLH) | XP_005249243.1:n.888+7T>G | |
| XM_011514698.1:c.702+7T>G (POLH) | XP_011513000.1:n.702+7T>G | |
| XM_005249186.4:c.888+7T>G (POLH) | XP_005249243.1:n.888+7T>G | |
| XM_011514698.3:c.702+7T>G (POLH) | XP_011513000.1:n.702+7T>G | |
| XM_024446466.1:c.822+7T>G (POLH) | XP_024302234.1:n.822+7T>G | |
| XM_024446467.1:c.618+7T>G (POLH) | XP_024302235.1:n.618+7T>G | |
| NM_001291969.2:c.702+7T>G (POLH) | NP_001278898.1:n.702+7T>G | |
| NM_001291970.2:c.1074+7T>G (POLH) | NP_001278899.1:n.1074+7T>G | |
| NM_006502.3:c.1074+7T>G (POLH) MANE Select | NP_006493.1:n.1074+7T>G | |
| NM_001318876.2:c.945+76055T>G (POLR1C) | NP_001305805.1:n.945+76055T>G |