Linked Data
ClinVar Variation Id:
2806491
ClinVar RCV Id:
RCV003679789
dbSNP Id:
rs760400094
ExAC:
6:43555233 C / G
gnomAD v2:
6-43555233-C-G
gnomAD v3:
6-43587496-C-G
gnomAD v4:
6-43587496-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43587496C>G , CM000668.2:g.43587496C>G | GRCh38 |
| NC_000006.11:g.43555233C>G , CM000668.1:g.43555233C>G | GRCh37 |
| NC_000006.10:g.43663211C>G | NCBI36 |
| NG_009252.1:g.16356C>G , LRG_470:g.16356C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.490+7C>G (POLH) MANE Select | ENSP00000361310.4:n.490+7C>G | |
| ENST00000372226.1:c.490+7C>G (POLH) | ENSP00000361300.1:n.490+7C>G | |
| ENST00000372236.8:c.490+7C>G (POLH) | ENSP00000361310.4:n.490+7C>G | |
| NM_001291969.1:c.118+4355C>G (POLH) | NP_001278898.1:n.118+4355C>G | |
| NM_001291970.1:c.490+7C>G (POLH) | NP_001278899.1:n.490+7C>G | |
| NM_006502.2:c.490+7C>G , LRG_470t1:c.490+7C>G (POLH) | NP_006493.1:n.490+7C>G | |
| XM_005249186.2:c.304+7C>G (POLH) | XP_005249243.1:n.304+7C>G | |
| XM_011514698.1:c.118+4355C>G (POLH) | XP_011513000.1:n.118+4355C>G | |
| XM_005249186.4:c.304+7C>G (POLH) | XP_005249243.1:n.304+7C>G | |
| XM_011514698.3:c.118+4355C>G (POLH) | XP_011513000.1:n.118+4355C>G | |
| XM_024446466.1:c.238+7C>G (POLH) | XP_024302234.1:n.238+7C>G | |
| XM_024446467.1:c.-123C>G (POLH) | XP_024302235.1:n.-123C>G | |
| NM_001291969.2:c.118+4355C>G (POLH) | NP_001278898.1:n.118+4355C>G | |
| NM_001291970.2:c.490+7C>G (POLH) | NP_001278899.1:n.490+7C>G | |
| NM_006502.3:c.490+7C>G (POLH) MANE Select | NP_006493.1:n.490+7C>G | |
| NM_001318876.2:c.945+58225C>G (POLR1C) | NP_001305805.1:n.945+58225C>G |