Linked Data
ClinVar Variation Id:
356887
ClinVar RCV Id:
RCV000336847
dbSNP Id:
rs56210561
gnomAD v2:
6-43543940-C-G
gnomAD v3:
6-43576203-C-G
gnomAD v4:
6-43576203-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43576203C>G , CM000668.2:g.43576203C>G | GRCh38 |
| NC_000006.11:g.43543940C>G , CM000668.1:g.43543940C>G | GRCh37 |
| NC_000006.10:g.43651918C>G | NCBI36 |
| NG_009252.1:g.5063C>G , LRG_470:g.5063C>G | |
| NG_051658.1:g.4873G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.-242C>G (POLH) MANE Select | ENSP00000361310.4:n.-242C>G | |
| ENST00000372236.8:c.-242C>G (POLH) | ENSP00000361310.4:n.-242C>G | |
| NM_001291969.1:c.-255C>G (POLH) | NP_001278898.1:n.-255C>G | |
| NM_001291970.1:c.-242C>G (POLH) | NP_001278899.1:n.-242C>G | |
| NM_006502.2:c.-242C>G , LRG_470t1:c.-242C>G (POLH) | NP_006493.1:n.-242C>G | |
| XM_005249186.2:c.-287C>G (POLH) | XP_005249243.1:n.-287C>G | |
| XM_011514698.1:c.-396C>G (POLH) | XP_011513000.1:n.-396C>G | |
| XM_005249186.4:c.-287C>G (POLH) | XP_005249243.1:n.-287C>G | |
| XM_011514698.3:c.-396C>G (POLH) | XP_011513000.1:n.-396C>G | |
| XM_024446466.1:c.-3245C>G (POLH) | XP_024302234.1:n.-3245C>G | |
| XM_024446467.1:c.-861C>G (POLH) | XP_024302235.1:n.-861C>G | |
| NM_001291969.2:c.-255C>G (POLH) | NP_001278898.1:n.-255C>G | |
| NM_001291970.2:c.-242C>G (POLH) | NP_001278899.1:n.-242C>G | |
| NM_006502.3:c.-242C>G (POLH) MANE Select | NP_006493.1:n.-242C>G | |
| NM_001318876.2:c.945+46932C>G (POLR1C) | NP_001305805.1:n.945+46932C>G |