Linked Data
ClinVar Variation Id:
5890
ClinVar RCV Id:
RCV000006248
dbSNP Id:
rs121908564
gnomAD v2:
6-43578333-C-T
gnomAD v4:
6-43610596-C-T
PubMed:
PMID:10398605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43610596C>T , CM000668.2:g.43610596C>T | GRCh38 |
| NC_000006.11:g.43578333C>T , CM000668.1:g.43578333C>T | GRCh37 |
| NC_000006.10:g.43686311C>T | NCBI36 |
| NG_009252.1:g.39456C>T , LRG_470:g.39456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372236.9:c.1117C>T (POLH) MANE Select | ENSP00000361310.4:p.Gln373Ter | |
| ENST00000372226.1:c.1117C>T (POLH) | ENSP00000361300.1:p.Gln373Ter | |
| ENST00000372236.8:c.1117C>T (POLH) | ENSP00000361310.4:p.Gln373Ter | |
| ENST00000496137.5:c.450-5214G>A (GTPBP2) | ENSP00000436973.1:n.450-5214G>A | |
| NM_001291969.1:c.745C>T (POLH) | NP_001278898.1:p.Gln249Ter | |
| NM_001291970.1:c.1117C>T (POLH) | NP_001278899.1:p.Gln373Ter | |
| NM_006502.2:c.1117C>T , LRG_470t1:c.1117C>T (POLH) | NP_006493.1:p.Gln373Ter | |
| XM_005249186.2:c.931C>T (POLH) | XP_005249243.1:p.Gln311Ter | |
| XM_011514698.1:c.745C>T (POLH) | XP_011513000.1:p.Gln249Ter | |
| XM_005249186.4:c.931C>T (POLH) | XP_005249243.1:p.Gln311Ter | |
| XM_011514698.3:c.745C>T (POLH) | XP_011513000.1:p.Gln249Ter | |
| XM_024446466.1:c.865C>T (POLH) | XP_024302234.1:p.Gln289Ter | |
| XM_024446467.1:c.661C>T (POLH) | XP_024302235.1:p.Gln221Ter | |
| NM_001291969.2:c.745C>T (POLH) | NP_001278898.1:p.Gln249Ter | |
| NM_001291970.2:c.1117C>T (POLH) | NP_001278899.1:p.Gln373Ter | |
| NM_006502.3:c.1117C>T (POLH) MANE Select | NP_006493.1:p.Gln373Ter | |
| NM_001318876.2:c.945+81325C>T (POLR1C) | NP_001305805.1:n.945+81325C>T |