Linked Data
ClinVar Variation Id:
195177
dbSNP Id:
rs757120802
ExAC:
15:89876855 T / C
gnomAD v2:
15-89876855-T-C
gnomAD v3:
15-89333624-T-C
gnomAD v4:
15-89333624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333624T>C , CM000677.2:g.89333624T>C | GRCh38 |
| NC_000015.9:g.89876855T>C , CM000677.1:g.89876855T>C | GRCh37 |
| NC_000015.8:g.87677859T>C | NCBI36 |
| NG_008218.1:g.6172A>G | |
| NG_008218.2:g.6172A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.131A>G (POLG) | ENSP00000516154.1:p.Gln44Arg | |
| ENST00000706918.1:c.186A>G (POLGARF) | ENSP00000516626.1:p.Ala62= | |
| ENST00000268124.11:c.131A>G (POLG) MANE Select | ENSP00000268124.5:p.Gln44Arg | |
| ENST00000635986.2:c.131A>G (POLG) | ENSP00000490653.2:p.Gln44Arg | |
| ENST00000636774.1:c.131A>G (POLG) | ENSP00000489799.1:p.Gln44Arg | |
| ENST00000650303.2:c.186A>G (POLG) | ENSP00000497242.2:p.Ala62= | |
| ENST00000672071.1:n.329A>G (POLG) | ||
| ENST00000268124.9:c.131A>G (POLG) | ENSP00000268124.5:p.Gln44Arg | |
| ENST00000442287.6:c.131A>G (POLG) | ENSP00000399851.2:p.Gln44Arg | |
| ENST00000631044.2:c.131A>G (POLG) | ENSP00000486730.1:p.Gln44Arg | |
| NM_001126131.1:c.131A>G (POLG) | NP_001119603.1:p.Gln44Arg | |
| NM_002693.2:c.131A>G (POLG) | NP_002684.1:p.Gln44Arg | |
| NM_001126131.2:c.131A>G (POLG) | NP_001119603.1:p.Gln44Arg | |
| NM_002693.3:c.131A>G (POLG) MANE Select | NP_002684.1:p.Gln44Arg |