Linked Data
ClinVar Variation Id:
3020702
ClinVar RCV Id:
RCV003879861
dbSNP Id:
rs2307458
ExAC:
6:43550209 A / T
gnomAD v2:
6-43550209-A-T
gnomAD v3:
6-43582472-A-T
gnomAD v4:
6-43582472-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43582472A>T , CM000668.2:g.43582472A>T | GRCh38 |
| NC_000006.11:g.43550209A>T , CM000668.1:g.43550209A>T | GRCh37 |
| NC_000006.10:g.43658187A>T | NCBI36 |
| NG_009252.1:g.11332A>T , LRG_470:g.11332A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.137+16A>T (POLH) MANE Select | ENSP00000361310.4:n.137+16A>T | |
| ENST00000372226.1:c.137+16A>T (POLH) | ENSP00000361300.1:n.137+16A>T | |
| ENST00000372236.8:c.137+16A>T (POLH) | ENSP00000361310.4:n.137+16A>T | |
| ENST00000443535.1:c.-49-535A>T (POLH) | ENSP00000405320.1:n.-49-535A>T | |
| NM_001291969.1:c.-17-535A>T (POLH) | NP_001278898.1:n.-17-535A>T | |
| NM_001291970.1:c.137+16A>T (POLH) | NP_001278899.1:n.137+16A>T | |
| NM_006502.2:c.137+16A>T , LRG_470t1:c.137+16A>T (POLH) | NP_006493.1:n.137+16A>T | |
| XM_005249186.2:c.-49-535A>T (POLH) | XP_005249243.1:n.-49-535A>T | |
| XM_011514698.1:c.-18+16A>T (POLH) | XP_011513000.1:n.-18+16A>T | |
| XM_005249186.4:c.-49-535A>T (POLH) | XP_005249243.1:n.-49-535A>T | |
| XM_011514698.3:c.-18+16A>T (POLH) | XP_011513000.1:n.-18+16A>T | |
| XM_024446466.1:c.-2867+16A>T (POLH) | XP_024302234.1:n.-2867+16A>T | |
| XM_024446467.1:c.-483+16A>T (POLH) | XP_024302235.1:n.-483+16A>T | |
| NM_001291969.2:c.-17-535A>T (POLH) | NP_001278898.1:n.-17-535A>T | |
| NM_001291970.2:c.137+16A>T (POLH) | NP_001278899.1:n.137+16A>T | |
| NM_006502.3:c.137+16A>T (POLH) MANE Select | NP_006493.1:n.137+16A>T | |
| NM_001318876.2:c.945+53201A>T (POLR1C) | NP_001305805.1:n.945+53201A>T |