Linked Data
ClinVar Variation Id:
21318
ClinVar RCV Id:
RCV000020482
RCV000541557
RCV000724388
RCV001121514
RCV002313715
RCV002476997
RCV003985723
dbSNP Id:
rs3176162
ExAC:
15:89876408 C / T
gnomAD v2:
15-89876408-C-T
gnomAD v3:
15-89333177-C-T
gnomAD v4:
15-89333177-C-T
COSMIC:
COSM4057786
PubMed:
PMID:20301791
ERepo:
CA241475/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333177C>T , CM000677.2:g.89333177C>T | GRCh38 |
| NC_000015.9:g.89876408C>T , CM000677.1:g.89876408C>T | GRCh37 |
| NC_000015.8:g.87677412C>T | NCBI36 |
| NG_008218.1:g.6619G>A | |
| NG_008218.2:g.6619G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.578G>A (POLG) | ENSP00000516154.1:p.Arg193Gln | |
| ENST00000706918.1:c.633G>A (POLGARF) | ENSP00000516626.1:p.Ala211= | |
| ENST00000268124.11:c.578G>A (POLG) MANE Select | ENSP00000268124.5:p.Arg193Gln | |
| ENST00000530292.3:c.179G>A (POLG) | ENSP00000432885.2:p.Arg60Gln | |
| ENST00000635986.2:c.578G>A (POLG) | ENSP00000490653.2:p.Arg193Gln | |
| ENST00000636774.1:c.578G>A (POLG) | ENSP00000489799.1:p.Arg193Gln | |
| ENST00000650303.2:c.633G>A (POLG) | ENSP00000497242.2:p.Ala211= | |
| ENST00000666746.1:c.235G>A (POLG) | ||
| ENST00000672071.1:n.776G>A (POLG) | ||
| ENST00000268124.9:c.578G>A (POLG) | ENSP00000268124.5:p.Arg193Gln | |
| ENST00000442287.6:c.578G>A (POLG) | ENSP00000399851.2:p.Arg193Gln | |
| ENST00000631044.2:c.578G>A (POLG) | ENSP00000486730.1:p.Arg193Gln | |
| NM_001126131.1:c.578G>A (POLG) | NP_001119603.1:p.Arg193Gln | |
| NM_002693.2:c.578G>A (POLG) | NP_002684.1:p.Arg193Gln | |
| NM_001126131.2:c.578G>A (POLG) | NP_001119603.1:p.Arg193Gln | |
| NM_002693.3:c.578G>A (POLG) MANE Select | NP_002684.1:p.Arg193Gln |