Linked Data
ClinVar Variation Id:
356916
dbSNP Id:
rs140971385
ExAC:
6:43582180 C / T
gnomAD v2:
6-43582180-C-T
gnomAD v3:
6-43614443-C-T
gnomAD v4:
6-43614443-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43614443C>T , CM000668.2:g.43614443C>T | GRCh38 |
| NC_000006.11:g.43582180C>T , CM000668.1:g.43582180C>T | GRCh37 |
| NC_000006.10:g.43690158C>T | NCBI36 |
| NG_009252.1:g.43303C>T , LRG_470:g.43303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.2028C>T (POLH) MANE Select | ENSP00000361310.4:p.Ala676= | |
| ENST00000372226.1:c.*712C>T (POLH) | ENSP00000361300.1:n.*712C>T | |
| ENST00000372236.8:c.2028C>T (POLH) | ENSP00000361310.4:p.Ala676= | |
| ENST00000496137.5:c.449+5676G>A (GTPBP2) | ENSP00000436973.1:n.449+5676G>A | |
| NM_001291969.1:c.1656C>T (POLH) | NP_001278898.1:p.Ala552= | |
| NM_001291970.1:c.*712C>T (POLH) | NP_001278899.1:n.*712C>T | |
| NM_006502.2:c.2028C>T , LRG_470t1:c.2028C>T (POLH) | NP_006493.1:p.Ala676= | |
| XM_005249186.2:c.1842C>T (POLH) | XP_005249243.1:p.Ala614= | |
| XM_011514698.1:c.1656C>T (POLH) | XP_011513000.1:p.Ala552= | |
| XM_005249186.4:c.1842C>T (POLH) | XP_005249243.1:p.Ala614= | |
| XM_011514698.3:c.1656C>T (POLH) | XP_011513000.1:p.Ala552= | |
| XM_024446466.1:c.1776C>T (POLH) | XP_024302234.1:p.Ala592= | |
| XM_024446467.1:c.1572C>T (POLH) | XP_024302235.1:p.Ala524= | |
| NM_001291969.2:c.1656C>T (POLH) | NP_001278898.1:p.Ala552= | |
| NM_001291970.2:c.*712C>T (POLH) | NP_001278899.1:n.*712C>T | |
| NM_006502.3:c.2028C>T (POLH) MANE Select | NP_006493.1:p.Ala676= | |
| NM_001318876.2:c.945+85172C>T (POLR1C) | NP_001305805.1:n.945+85172C>T |