Linked Data
ClinVar Variation Id:
458718
dbSNP Id:
rs148786642
ExAC:
15:89860035 T / C
gnomAD v2:
15-89860035-T-C
gnomAD v3:
15-89316804-T-C
gnomAD v4:
15-89316804-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89316804T>C , CM000677.2:g.89316804T>C | GRCh38 |
| NC_000015.9:g.89860035T>C , CM000677.1:g.89860035T>C | GRCh37 |
| NC_000015.8:g.87661039T>C | NCBI36 |
| NG_008218.1:g.22992A>G | |
| NG_011736.1:g.77842T>C , LRG_500:g.77842T>C | |
| NG_008218.2:g.22992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3667A>G (POLG) | ENSP00000516154.1:p.Ile1223Val | |
| ENST00000696717.1:c.*345T>C (FANCI) | ENSP00000512830.1:n.*345T>C | |
| ENST00000696718.1:c.*345T>C (FANCI) | ENSP00000512831.1:n.*345T>C | |
| ENST00000696719.1:c.*345T>C (FANCI) | ENSP00000512832.1:n.*345T>C | |
| ENST00000268124.11:c.3667A>G (POLG) MANE Select | ENSP00000268124.5:p.Ile1223Val | |
| ENST00000310775.12:c.*345T>C (FANCI) MANE Select | ENSP00000310842.8:n.*345T>C | |
| ENST00000530292.3:c.3367A>G (POLG) | ENSP00000432885.2:n.3367A>G | |
| ENST00000635986.2:c.*737A>G (POLG) | ENSP00000490653.2:n.*737A>G | |
| ENST00000636774.1:c.*2271A>G (POLG) | ENSP00000489799.1:n.*2271A>G | |
| ENST00000637238.1:c.2575A>G (POLG) | ENSP00000490756.1:n.2575A>G | |
| ENST00000637264.1:c.2679A>G (POLG) | ||
| ENST00000666746.1:c.3244A>G (POLG) | ||
| ENST00000672071.1:n.4869A>G (POLG) | ||
| ENST00000672695.1:n.1446A>G (POLG) | ||
| ENST00000672923.2:n.3667A>G (POLG) | ||
| ENST00000675352.1:n.3537T>C (FANCI) | ||
| ENST00000676003.1:c.*345T>C (FANCI) | ENSP00000502254.1:n.*345T>C | |
| ENST00000676110.1:n.3913T>C (FANCI) | ||
| ENST00000268124.9:c.3667A>G (POLG) | ENSP00000268124.5:p.Ile1223Val | |
| ENST00000300027.12:c.*345T>C (FANCI) | ENSP00000300027.8:n.*345T>C | |
| ENST00000310775.11:c.*345T>C (FANCI) | ENSP00000310842.7:n.*345T>C | |
| ENST00000442287.6:c.3667A>G (POLG) | ENSP00000399851.2:p.Ile1223Val | |
| ENST00000526671.1:n.477A>G (POLG) | ||
| ENST00000530292.2:c.850A>G (POLG) | ENSP00000432885.1:n.850A>G | |
| ENST00000566895.5:n.4339T>C (FANCI) | ||
| ENST00000631044.2:c.*3091A>G (POLG) | ENSP00000486730.1:n.*3091A>G | |
| NM_001113378.1:c.*345T>C , LRG_500t1:c.*345T>C (FANCI) | NP_001106849.1:n.*345T>C | |
| NM_001126131.1:c.3667A>G (POLG) | NP_001119603.1:p.Ile1223Val | |
| NM_002693.2:c.3667A>G (POLG) | NP_002684.1:p.Ile1223Val | |
| NM_018193.2:c.*345T>C (FANCI) | NP_060663.2:n.*345T>C | |
| XM_011521756.1:c.*345T>C (FANCI) | XP_011520058.1:n.*345T>C | |
| XM_011521757.1:c.*345T>C (FANCI) | XP_011520059.1:n.*345T>C | |
| XM_011521758.1:c.*345T>C (FANCI) | XP_011520060.1:n.*345T>C | |
| XM_011521759.1:c.*345T>C (FANCI) | XP_011520061.1:n.*345T>C | |
| XM_011521760.1:c.*345T>C (FANCI) | XP_011520062.1:n.*345T>C | |
| XM_011521761.1:c.*345T>C (FANCI) | XP_011520063.1:n.*345T>C | |
| XM_011521762.1:c.*345T>C (FANCI) | XP_011520064.1:n.*345T>C | |
| XM_011521763.1:c.*345T>C (FANCI) | XP_011520065.1:n.*345T>C | |
| XM_011521764.1:c.*345T>C (FANCI) | XP_011520066.1:n.*345T>C | |
| XM_011521765.1:c.*345T>C (FANCI) | XP_011520067.1:n.*345T>C | |
| XM_011521766.1:c.*345T>C (FANCI) | XP_011520068.1:n.*345T>C | |
| XM_011521767.1:c.*345T>C (FANCI) | XP_011520069.1:n.*345T>C | |
| XM_011521769.1:c.*345T>C (FANCI) | XP_011520071.1:n.*345T>C | |
| XM_011521756.2:c.*345T>C (FANCI) | XP_011520058.1:n.*345T>C | |
| XM_011521757.2:c.*345T>C (FANCI) | XP_011520059.1:n.*345T>C | |
| XM_011521764.2:c.*345T>C (FANCI) | XP_011520066.1:n.*345T>C | |
| XM_011521767.2:c.*345T>C (FANCI) | XP_011520069.1:n.*345T>C | |
| NM_001113378.2:c.*345T>C (FANCI) MANE Select | NP_001106849.1:n.*345T>C | |
| NM_001126131.2:c.3667A>G (POLG) | NP_001119603.1:p.Ile1223Val | |
| NM_001376910.1:c.*345T>C (FANCI) | NP_001363839.1:n.*345T>C | |
| NM_001376911.1:c.*345T>C (FANCI) | NP_001363840.1:n.*345T>C | |
| NM_018193.3:c.*345T>C (FANCI) | NP_060663.2:n.*345T>C | |
| NM_002693.3:c.3667A>G (POLG) MANE Select | NP_002684.1:p.Ile1223Val |