Linked Data
ClinVar Variation Id:
5889
ClinVar RCV Id:
RCV000006247
dbSNP Id:
rs121908563
gnomAD v2:
6-43555112-C-T
gnomAD v4:
6-43587375-C-T
PubMed:
PMID:10398605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43587375C>T , CM000668.2:g.43587375C>T | GRCh38 |
| NC_000006.11:g.43555112C>T , CM000668.1:g.43555112C>T | GRCh37 |
| NC_000006.10:g.43663090C>T | NCBI36 |
| NG_009252.1:g.16235C>T , LRG_470:g.16235C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372236.9:c.376C>T (POLH) MANE Select | ENSP00000361310.4:p.Gln126Ter | |
| ENST00000372226.1:c.376C>T (POLH) | ENSP00000361300.1:p.Gln126Ter | |
| ENST00000372236.8:c.376C>T (POLH) | ENSP00000361310.4:p.Gln126Ter | |
| ENST00000443535.1:c.190C>T (POLH) | ENSP00000405320.1:p.Gln64Ter | |
| NM_001291969.1:c.118+4234C>T (POLH) | NP_001278898.1:n.118+4234C>T | |
| NM_001291970.1:c.376C>T (POLH) | NP_001278899.1:p.Gln126Ter | |
| NM_006502.2:c.376C>T , LRG_470t1:c.376C>T (POLH) | NP_006493.1:p.Gln126Ter | |
| XM_005249186.2:c.190C>T (POLH) | XP_005249243.1:p.Gln64Ter | |
| XM_011514698.1:c.118+4234C>T (POLH) | XP_011513000.1:n.118+4234C>T | |
| XM_005249186.4:c.190C>T (POLH) | XP_005249243.1:p.Gln64Ter | |
| XM_011514698.3:c.118+4234C>T (POLH) | XP_011513000.1:n.118+4234C>T | |
| XM_024446466.1:c.124C>T (POLH) | XP_024302234.1:p.Gln42Ter | |
| XM_024446467.1:c.-244C>T (POLH) | XP_024302235.1:n.-244C>T | |
| NM_001291969.2:c.118+4234C>T (POLH) | NP_001278898.1:n.118+4234C>T | |
| NM_001291970.2:c.376C>T (POLH) | NP_001278899.1:p.Gln126Ter | |
| NM_006502.3:c.376C>T (POLH) MANE Select | NP_006493.1:p.Gln126Ter | |
| NM_001318876.2:c.945+58104C>T (POLR1C) | NP_001305805.1:n.945+58104C>T |