Linked Data
ClinVar Variation Id:
259988
dbSNP Id:
rs9333555
ExAC:
6:43581935 A / G
gnomAD v2:
6-43581935-A-G
gnomAD v3:
6-43614198-A-G
gnomAD v4:
6-43614198-A-G
PubMed:
PMID:19477635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43614198A>G , CM000668.2:g.43614198A>G | GRCh38 |
| NC_000006.11:g.43581935A>G , CM000668.1:g.43581935A>G | GRCh37 |
| NC_000006.10:g.43689913A>G | NCBI36 |
| NG_009252.1:g.43058A>G , LRG_470:g.43058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.1783A>G (POLH) MANE Select | ENSP00000361310.4:p.Met595Val | |
| ENST00000372226.1:c.*467A>G (POLH) | ENSP00000361300.1:n.*467A>G | |
| ENST00000372236.8:c.1783A>G (POLH) | ENSP00000361310.4:p.Met595Val | |
| ENST00000496137.5:c.449+5921T>C (GTPBP2) | ENSP00000436973.1:n.449+5921T>C | |
| NM_001291969.1:c.1411A>G (POLH) | NP_001278898.1:p.Met471Val | |
| NM_001291970.1:c.*467A>G (POLH) | NP_001278899.1:n.*467A>G | |
| NM_006502.2:c.1783A>G , LRG_470t1:c.1783A>G (POLH) | NP_006493.1:p.Met595Val | |
| XM_005249186.2:c.1597A>G (POLH) | XP_005249243.1:p.Met533Val | |
| XM_011514698.1:c.1411A>G (POLH) | XP_011513000.1:p.Met471Val | |
| XM_005249186.4:c.1597A>G (POLH) | XP_005249243.1:p.Met533Val | |
| XM_011514698.3:c.1411A>G (POLH) | XP_011513000.1:p.Met471Val | |
| XM_024446466.1:c.1531A>G (POLH) | XP_024302234.1:p.Met511Val | |
| XM_024446467.1:c.1327A>G (POLH) | XP_024302235.1:p.Met443Val | |
| NM_001291969.2:c.1411A>G (POLH) | NP_001278898.1:p.Met471Val | |
| NM_001291970.2:c.*467A>G (POLH) | NP_001278899.1:n.*467A>G | |
| NM_006502.3:c.1783A>G (POLH) MANE Select | NP_006493.1:p.Met595Val | |
| NM_001318876.2:c.945+84927A>G (POLR1C) | NP_001305805.1:n.945+84927A>G |