Linked Data
ClinVar Variation Id:
13515
dbSNP Id:
rs121918056
gnomAD v2:
15-89873488-G-A
gnomAD v3:
15-89330257-G-A
gnomAD v4:
15-89330257-G-A
PubMed:
PMID:19307547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330257G>A , CM000677.2:g.89330257G>A | GRCh38 |
| NC_000015.9:g.89873488G>A , CM000677.1:g.89873488G>A | GRCh37 |
| NC_000015.8:g.87674492G>A | NCBI36 |
| NG_008218.1:g.9539C>T | |
| NG_008218.2:g.9539C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.679C>T (POLG) | ENSP00000516154.1:p.Arg227Trp | |
| ENST00000706918.1:c.734C>T (POLGARF) | ENSP00000516626.1:p.Ala245Val | |
| ENST00000268124.11:c.679C>T (POLG) MANE Select | ENSP00000268124.5:p.Arg227Trp | |
| ENST00000530292.3:c.280C>T (POLG) | ENSP00000432885.2:p.Arg94Trp | |
| ENST00000635986.2:c.679C>T (POLG) | ENSP00000490653.2:p.Arg227Trp | |
| ENST00000636774.1:c.679C>T (POLG) | ENSP00000489799.1:p.Arg227Trp | |
| ENST00000637307.1:c.54C>T (POLG) | ||
| ENST00000650303.2:c.734C>T (POLG) | ENSP00000497242.2:p.Ala245Val | |
| ENST00000666746.1:c.336C>T (POLG) | ||
| ENST00000672071.1:n.877C>T (POLG) | ||
| ENST00000268124.9:c.679C>T (POLG) | ENSP00000268124.5:p.Arg227Trp | |
| ENST00000442287.6:c.679C>T (POLG) | ENSP00000399851.2:p.Arg227Trp | |
| ENST00000631044.2:c.*62C>T (POLG) | ENSP00000486730.1:n.*62C>T | |
| NM_001126131.1:c.679C>T (POLG) | NP_001119603.1:p.Arg227Trp | |
| NM_002693.2:c.679C>T (POLG) | NP_002684.1:p.Arg227Trp | |
| NM_001126131.2:c.679C>T (POLG) | NP_001119603.1:p.Arg227Trp | |
| NM_002693.3:c.679C>T (POLG) MANE Select | NP_002684.1:p.Arg227Trp |