Linked Data
ClinVar Variation Id:
206492
ClinVar RCV Id:
RCV000578205
RCV000469850
RCV000726559
RCV001252352
RCV001116622
RCV003993876
RCV002321761
RCV003985750
dbSNP Id:
rs562847013
ExAC:
15:89876595 A / G
gnomAD v2:
15-89876595-A-G
gnomAD v3:
15-89333364-A-G
gnomAD v4:
15-89333364-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89333364A>G , CM000677.2:g.89333364A>G | GRCh38 |
| NC_000015.9:g.89876595A>G , CM000677.1:g.89876595A>G | GRCh37 |
| NC_000015.8:g.87677599A>G | NCBI36 |
| NG_008218.1:g.6432T>C | |
| NG_008218.2:g.6432T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.391T>C (POLG) | ENSP00000516154.1:p.Tyr131His | |
| ENST00000706918.1:c.446T>C (POLGARF) | ENSP00000516626.1:p.Leu149Pro | |
| ENST00000268124.11:c.391T>C (POLG) MANE Select | ENSP00000268124.5:p.Tyr131His | |
| ENST00000635986.2:c.391T>C (POLG) | ENSP00000490653.2:p.Tyr131His | |
| ENST00000636774.1:c.391T>C (POLG) | ENSP00000489799.1:p.Tyr131His | |
| ENST00000650303.2:c.446T>C (POLG) | ENSP00000497242.2:p.Leu149Pro | |
| ENST00000666746.1:c.48T>C (POLG) | ||
| ENST00000672071.1:n.589T>C (POLG) | ||
| ENST00000268124.9:c.391T>C (POLG) | ENSP00000268124.5:p.Tyr131His | |
| ENST00000442287.6:c.391T>C (POLG) | ENSP00000399851.2:p.Tyr131His | |
| ENST00000631044.2:c.391T>C (POLG) | ENSP00000486730.1:p.Tyr131His | |
| NM_001126131.1:c.391T>C (POLG) | NP_001119603.1:p.Tyr131His | |
| NM_002693.2:c.391T>C (POLG) | NP_002684.1:p.Tyr131His | |
| NM_001126131.2:c.391T>C (POLG) | NP_001119603.1:p.Tyr131His | |
| NM_002693.3:c.391T>C (POLG) MANE Select | NP_002684.1:p.Tyr131His |