Linked Data
ClinVar Variation Id:
356892
ClinVar RCV Id:
RCV000308184
dbSNP Id:
rs780824153
gnomAD v3:
6-43576250-G-A
gnomAD v4:
6-43576250-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43576250G>A , CM000668.2:g.43576250G>A | GRCh38 |
| NC_000006.11:g.43543987G>A , CM000668.1:g.43543987G>A | GRCh37 |
| NC_000006.10:g.43651965G>A | NCBI36 |
| NG_009252.1:g.5110G>A , LRG_470:g.5110G>A | |
| NG_051658.1:g.4826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.-195G>A (POLH) MANE Select | ENSP00000361310.4:n.-195G>A | |
| ENST00000372236.8:c.-195G>A (POLH) | ENSP00000361310.4:n.-195G>A | |
| NM_001291969.1:c.-208G>A (POLH) | NP_001278898.1:n.-208G>A | |
| NM_001291970.1:c.-195G>A (POLH) | NP_001278899.1:n.-195G>A | |
| NM_006502.2:c.-195G>A , LRG_470t1:c.-195G>A (POLH) | NP_006493.1:n.-195G>A | |
| XM_005249186.2:c.-240G>A (POLH) | XP_005249243.1:n.-240G>A | |
| XM_011514698.1:c.-349G>A (POLH) | XP_011513000.1:n.-349G>A | |
| XM_005249186.4:c.-240G>A (POLH) | XP_005249243.1:n.-240G>A | |
| XM_011514698.3:c.-349G>A (POLH) | XP_011513000.1:n.-349G>A | |
| XM_024446466.1:c.-3198G>A (POLH) | XP_024302234.1:n.-3198G>A | |
| XM_024446467.1:c.-814G>A (POLH) | XP_024302235.1:n.-814G>A | |
| NM_001291969.2:c.-208G>A (POLH) | NP_001278898.1:n.-208G>A | |
| NM_001291970.2:c.-195G>A (POLH) | NP_001278899.1:n.-195G>A | |
| NM_006502.3:c.-195G>A (POLH) MANE Select | NP_006493.1:n.-195G>A | |
| NM_001318876.2:c.945+46979G>A (POLR1C) | NP_001305805.1:n.945+46979G>A |