Linked Data
ClinVar Variation Id:
2896321
ClinVar RCV Id:
RCV003730868
dbSNP Id:
rs369844648
gnomAD v2:
6-43565515-C-A
gnomAD v3:
6-43597778-C-A
gnomAD v4:
6-43597778-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43597778C>A , CM000668.2:g.43597778C>A | GRCh38 |
| NC_000006.11:g.43565515C>A , CM000668.1:g.43565515C>A | GRCh37 |
| NC_000006.10:g.43673493C>A | NCBI36 |
| NG_009252.1:g.26638C>A , LRG_470:g.26638C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.573C>A (POLH) MANE Select | ENSP00000361310.4:p.Thr191= | |
| ENST00000372226.1:c.573C>A (POLH) | ENSP00000361300.1:p.Thr191= | |
| ENST00000372236.8:c.573C>A (POLH) | ENSP00000361310.4:p.Thr191= | |
| NM_001291969.1:c.201C>A (POLH) | NP_001278898.1:p.Thr67= | |
| NM_001291970.1:c.573C>A (POLH) | NP_001278899.1:p.Thr191= | |
| NM_006502.2:c.573C>A , LRG_470t1:c.573C>A (POLH) | NP_006493.1:p.Thr191= | |
| XM_005249186.2:c.387C>A (POLH) | XP_005249243.1:p.Thr129= | |
| XM_011514698.1:c.201C>A (POLH) | XP_011513000.1:p.Thr67= | |
| XM_005249186.4:c.387C>A (POLH) | XP_005249243.1:p.Thr129= | |
| XM_011514698.3:c.201C>A (POLH) | XP_011513000.1:p.Thr67= | |
| XM_024446466.1:c.321C>A (POLH) | XP_024302234.1:p.Thr107= | |
| XM_024446467.1:c.117C>A (POLH) | XP_024302235.1:p.Thr39= | |
| NM_001291969.2:c.201C>A (POLH) | NP_001278898.1:p.Thr67= | |
| NM_001291970.2:c.573C>A (POLH) | NP_001278899.1:p.Thr191= | |
| NM_006502.3:c.573C>A (POLH) MANE Select | NP_006493.1:p.Thr191= | |
| NM_001318876.2:c.945+68507C>A (POLR1C) | NP_001305805.1:n.945+68507C>A |