Linked Data
ClinVar Variation Id:
2869597
ClinVar RCV Id:
RCV003705674
dbSNP Id:
rs775769629
ExAC:
6:43555111 A / G
gnomAD v2:
6-43555111-A-G
gnomAD v3:
6-43587374-A-G
gnomAD v4:
6-43587374-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43587374A>G , CM000668.2:g.43587374A>G | GRCh38 |
| NC_000006.11:g.43555111A>G , CM000668.1:g.43555111A>G | GRCh37 |
| NC_000006.10:g.43663089A>G | NCBI36 |
| NG_009252.1:g.16234A>G , LRG_470:g.16234A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.375A>G (POLH) MANE Select | ENSP00000361310.4:p.Val125= | |
| ENST00000372226.1:c.375A>G (POLH) | ENSP00000361300.1:p.Val125= | |
| ENST00000372236.8:c.375A>G (POLH) | ENSP00000361310.4:p.Val125= | |
| ENST00000443535.1:c.189A>G (POLH) | ENSP00000405320.1:p.Val63= | |
| NM_001291969.1:c.118+4233A>G (POLH) | NP_001278898.1:n.118+4233A>G | |
| NM_001291970.1:c.375A>G (POLH) | NP_001278899.1:p.Val125= | |
| NM_006502.2:c.375A>G , LRG_470t1:c.375A>G (POLH) | NP_006493.1:p.Val125= | |
| XM_005249186.2:c.189A>G (POLH) | XP_005249243.1:p.Val63= | |
| XM_011514698.1:c.118+4233A>G (POLH) | XP_011513000.1:n.118+4233A>G | |
| XM_005249186.4:c.189A>G (POLH) | XP_005249243.1:p.Val63= | |
| XM_011514698.3:c.118+4233A>G (POLH) | XP_011513000.1:n.118+4233A>G | |
| XM_024446466.1:c.123A>G (POLH) | XP_024302234.1:p.Val41= | |
| XM_024446467.1:c.-245A>G (POLH) | XP_024302235.1:n.-245A>G | |
| NM_001291969.2:c.118+4233A>G (POLH) | NP_001278898.1:n.118+4233A>G | |
| NM_001291970.2:c.375A>G (POLH) | NP_001278899.1:p.Val125= | |
| NM_006502.3:c.375A>G (POLH) MANE Select | NP_006493.1:p.Val125= | |
| NM_001318876.2:c.945+58103A>G (POLR1C) | NP_001305805.1:n.945+58103A>G |