Linked Data
ClinVar Variation Id:
206581
ClinVar RCV Id:
RCV000633538
RCV000678826
RCV000710188
RCV001121513
RCV001263148
RCV001808471
RCV002362986
RCV003317141
dbSNP Id:
rs147282197
ExAC:
15:89873489 C / G
gnomAD v2:
15-89873489-C-G
gnomAD v3:
15-89330258-C-G
gnomAD v4:
15-89330258-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330258C>G , CM000677.2:g.89330258C>G | GRCh38 |
| NC_000015.9:g.89873489C>G , CM000677.1:g.89873489C>G | GRCh37 |
| NC_000015.8:g.87674493C>G | NCBI36 |
| NG_008218.1:g.9538G>C | |
| NG_008218.2:g.9538G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.678G>C (POLG) | ENSP00000516154.1:p.Gln226His | |
| ENST00000706918.1:c.733G>C (POLGARF) | ENSP00000516626.1:p.Ala245Pro | |
| ENST00000268124.11:c.678G>C (POLG) MANE Select | ENSP00000268124.5:p.Gln226His | |
| ENST00000530292.3:c.279G>C (POLG) | ENSP00000432885.2:p.Gln93His | |
| ENST00000635986.2:c.678G>C (POLG) | ENSP00000490653.2:p.Gln226His | |
| ENST00000636774.1:c.678G>C (POLG) | ENSP00000489799.1:p.Gln226His | |
| ENST00000637307.1:c.53G>C (POLG) | ||
| ENST00000650303.2:c.733G>C (POLG) | ENSP00000497242.2:p.Ala245Pro | |
| ENST00000666746.1:c.335G>C (POLG) | ||
| ENST00000672071.1:n.876G>C (POLG) | ||
| ENST00000268124.9:c.678G>C (POLG) | ENSP00000268124.5:p.Gln226His | |
| ENST00000442287.6:c.678G>C (POLG) | ENSP00000399851.2:p.Gln226His | |
| ENST00000631044.2:c.*61G>C (POLG) | ENSP00000486730.1:n.*61G>C | |
| NM_001126131.1:c.678G>C (POLG) | NP_001119603.1:p.Gln226His | |
| NM_002693.2:c.678G>C (POLG) | NP_002684.1:p.Gln226His | |
| NM_001126131.2:c.678G>C (POLG) | NP_001119603.1:p.Gln226His | |
| NM_002693.3:c.678G>C (POLG) MANE Select | NP_002684.1:p.Gln226His |