Linked Data
ClinVar Variation Id:
356898
ClinVar RCV Id:
RCV000304368
dbSNP Id:
rs372613817
ExAC:
6:43550838 G / A
gnomAD v2:
6-43550838-G-A
gnomAD v3:
6-43583101-G-A
gnomAD v4:
6-43583101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43583101G>A , CM000668.2:g.43583101G>A | GRCh38 |
| NC_000006.11:g.43550838G>A , CM000668.1:g.43550838G>A | GRCh37 |
| NC_000006.10:g.43658816G>A | NCBI36 |
| NG_009252.1:g.11961G>A , LRG_470:g.11961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.232G>A (POLH) MANE Select | ENSP00000361310.4:p.Ala78Thr | |
| ENST00000372226.1:c.232G>A (POLH) | ENSP00000361300.1:p.Ala78Thr | |
| ENST00000372236.8:c.232G>A (POLH) | ENSP00000361310.4:p.Ala78Thr | |
| ENST00000443535.1:c.46G>A (POLH) | ENSP00000405320.1:p.Ala16Thr | |
| NM_001291969.1:c.78G>A (POLH) | NP_001278898.1:p.Trp26Ter | |
| NM_001291970.1:c.232G>A (POLH) | NP_001278899.1:p.Ala78Thr | |
| NM_006502.2:c.232G>A , LRG_470t1:c.232G>A (POLH) | NP_006493.1:p.Ala78Thr | |
| XM_005249186.2:c.46G>A (POLH) | XP_005249243.1:p.Ala16Thr | |
| XM_011514698.1:c.78G>A (POLH) | XP_011513000.1:p.Trp26Ter | |
| XM_005249186.4:c.46G>A (POLH) | XP_005249243.1:p.Ala16Thr | |
| XM_011514698.3:c.78G>A (POLH) | XP_011513000.1:p.Trp26Ter | |
| XM_024446466.1:c.-2772G>A (POLH) | XP_024302234.1:n.-2772G>A | |
| XM_024446467.1:c.-388G>A (POLH) | XP_024302235.1:n.-388G>A | |
| NM_001291969.2:c.78G>A (POLH) | NP_001278898.1:p.Trp26Ter | |
| NM_001291970.2:c.232G>A (POLH) | NP_001278899.1:p.Ala78Thr | |
| NM_006502.3:c.232G>A (POLH) MANE Select | NP_006493.1:p.Ala78Thr | |
| NM_001318876.2:c.945+53830G>A (POLR1C) | NP_001305805.1:n.945+53830G>A |