Linked Data
ClinVar Variation Id:
3010773
ClinVar RCV Id:
RCV003862412
dbSNP Id:
rs983016336
gnomAD v4:
15-89326746-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326746G>T , CM000677.2:g.89326746G>T | GRCh38 |
| NC_000015.9:g.89869977G>T , CM000677.1:g.89869977G>T | GRCh37 |
| NC_000015.8:g.87670981G>T | NCBI36 |
| NG_008218.1:g.13050C>A | |
| NG_008218.2:g.13050C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1586-8C>A (POLG) | ENSP00000516154.1:n.1586-8C>A | |
| ENST00000268124.11:c.1586-8C>A (POLG) MANE Select | ENSP00000268124.5:n.1586-8C>A | |
| ENST00000530292.3:c.1187-8C>A (POLG) | ENSP00000432885.2:n.1187-8C>A | |
| ENST00000635986.2:c.1586-8C>A (POLG) | ENSP00000490653.2:n.1586-8C>A | |
| ENST00000636774.1:c.*153-8C>A (POLG) | ENSP00000489799.1:n.*153-8C>A | |
| ENST00000637238.1:c.323-8C>A (POLG) | ENSP00000490756.1:n.323-8C>A | |
| ENST00000637264.1:c.658-8C>A (POLG) | ||
| ENST00000666746.1:c.1163-8C>A (POLG) | ||
| ENST00000672071.1:n.1784-8C>A (POLG) | ||
| ENST00000672923.2:n.1689-8C>A (POLG) | ||
| ENST00000268124.9:c.1586-8C>A (POLG) | ENSP00000268124.5:n.1586-8C>A | |
| ENST00000442287.6:c.1586-8C>A (POLG) | ENSP00000399851.2:n.1586-8C>A | |
| ENST00000631044.2:c.*969-8C>A (POLG) | ENSP00000486730.1:n.*969-8C>A | |
| NM_001126131.1:c.1586-8C>A (POLG) | NP_001119603.1:n.1586-8C>A | |
| NM_002693.2:c.1586-8C>A (POLG) | NP_002684.1:n.1586-8C>A | |
| NR_106824.1:n.65C>A (MIR6766) | ||
| NM_001126131.2:c.1586-8C>A (POLG) | NP_001119603.1:n.1586-8C>A | |
| NM_002693.3:c.1586-8C>A (POLG) MANE Select | NP_002684.1:n.1586-8C>A |