Linked Data
ClinVar Variation Id:
1622245
ClinVar RCV Id:
RCV002094509
dbSNP Id:
rs2141806818
MyVariant Identifiers:
chr15:g.89873483C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330252C>T , CM000677.2:g.89330252C>T | GRCh38 |
| NC_000015.9:g.89873483C>T , CM000677.1:g.89873483C>T | GRCh37 |
| NC_000015.8:g.87674487C>T | NCBI36 |
| NG_008218.1:g.9544G>A | |
| NG_008218.2:g.9544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.684G>A (POLG) | ENSP00000516154.1:p.Leu228= | |
| ENST00000706918.1:c.739G>A (POLGARF) | ENSP00000516626.1:p.Gly247Ser | |
| ENST00000268124.11:c.684G>A (POLG) MANE Select | ENSP00000268124.5:p.Leu228= | |
| ENST00000530292.3:c.285G>A (POLG) | ENSP00000432885.2:p.Leu95= | |
| ENST00000635986.2:c.684G>A (POLG) | ENSP00000490653.2:p.Leu228= | |
| ENST00000636774.1:c.684G>A (POLG) | ENSP00000489799.1:p.Leu228= | |
| ENST00000637307.1:c.59G>A (POLG) | ||
| ENST00000650303.2:c.739G>A (POLG) | ENSP00000497242.2:p.Gly247Ser | |
| ENST00000666746.1:c.341G>A (POLG) | ||
| ENST00000672071.1:n.882G>A (POLG) | ||
| ENST00000268124.9:c.684G>A (POLG) | ENSP00000268124.5:p.Leu228= | |
| ENST00000442287.6:c.684G>A (POLG) | ENSP00000399851.2:p.Leu228= | |
| ENST00000631044.2:c.*67G>A (POLG) | ENSP00000486730.1:n.*67G>A | |
| NM_001126131.1:c.684G>A (POLG) | NP_001119603.1:p.Leu228= | |
| NM_002693.2:c.684G>A (POLG) | NP_002684.1:p.Leu228= | |
| NM_001126131.2:c.684G>A (POLG) | NP_001119603.1:p.Leu228= | |
| NM_002693.3:c.684G>A (POLG) MANE Select | NP_002684.1:p.Leu228= |