Linked Data
ClinVar Variation Id:
356890
ClinVar RCV Id:
RCV000352515
dbSNP Id:
rs750754629
gnomAD v2:
6-43543963-T-A
gnomAD v3:
6-43576226-T-A
gnomAD v4:
6-43576226-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43576226T>A , CM000668.2:g.43576226T>A | GRCh38 |
| NC_000006.11:g.43543963T>A , CM000668.1:g.43543963T>A | GRCh37 |
| NC_000006.10:g.43651941T>A | NCBI36 |
| NG_009252.1:g.5086T>A , LRG_470:g.5086T>A | |
| NG_051658.1:g.4850A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372236.9:c.-219T>A (POLH) MANE Select | ENSP00000361310.4:n.-219T>A | |
| ENST00000372236.8:c.-219T>A (POLH) | ENSP00000361310.4:n.-219T>A | |
| NM_001291969.1:c.-232T>A (POLH) | NP_001278898.1:n.-232T>A | |
| NM_001291970.1:c.-219T>A (POLH) | NP_001278899.1:n.-219T>A | |
| NM_006502.2:c.-219T>A , LRG_470t1:c.-219T>A (POLH) | NP_006493.1:n.-219T>A | |
| XM_005249186.2:c.-264T>A (POLH) | XP_005249243.1:n.-264T>A | |
| XM_011514698.1:c.-373T>A (POLH) | XP_011513000.1:n.-373T>A | |
| XM_005249186.4:c.-264T>A (POLH) | XP_005249243.1:n.-264T>A | |
| XM_011514698.3:c.-373T>A (POLH) | XP_011513000.1:n.-373T>A | |
| XM_024446466.1:c.-3222T>A (POLH) | XP_024302234.1:n.-3222T>A | |
| XM_024446467.1:c.-838T>A (POLH) | XP_024302235.1:n.-838T>A | |
| NM_001291969.2:c.-232T>A (POLH) | NP_001278898.1:n.-232T>A | |
| NM_001291970.2:c.-219T>A (POLH) | NP_001278899.1:n.-219T>A | |
| NM_006502.3:c.-219T>A (POLH) MANE Select | NP_006493.1:n.-219T>A | |
| NM_001318876.2:c.945+46955T>A (POLR1C) | NP_001305805.1:n.945+46955T>A |