Linked Data
dbSNP Id:
rs752239394
ExAC:
15:89859980 T / C
gnomAD v2:
15-89859980-T-C
gnomAD v3:
15-89316749-T-C
gnomAD v4:
15-89316749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89316749T>C , CM000677.2:g.89316749T>C | GRCh38 |
| NC_000015.9:g.89859980T>C , CM000677.1:g.89859980T>C | GRCh37 |
| NC_000015.8:g.87660984T>C | NCBI36 |
| NG_008218.1:g.23047A>G | |
| NG_011736.1:g.77787T>C , LRG_500:g.77787T>C | |
| NG_008218.2:g.23047A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.*2A>G (POLG) | ENSP00000516154.1:n.*2A>G | |
| ENST00000696717.1:c.*290T>C (FANCI) | ENSP00000512830.1:n.*290T>C | |
| ENST00000696718.1:c.*290T>C (FANCI) | ENSP00000512831.1:n.*290T>C | |
| ENST00000696719.1:c.*290T>C (FANCI) | ENSP00000512832.1:n.*290T>C | |
| ENST00000268124.11:c.*2A>G (POLG) MANE Select | ENSP00000268124.5:n.*2A>G | |
| ENST00000310775.12:c.*290T>C (FANCI) MANE Select | ENSP00000310842.8:n.*290T>C | |
| ENST00000530292.3:c.3422A>G (POLG) | ENSP00000432885.2:n.3422A>G | |
| ENST00000635831.1:c.30A>G (POLG) | ||
| ENST00000635986.2:c.*792A>G (POLG) | ENSP00000490653.2:n.*792A>G | |
| ENST00000636774.1:c.*2326A>G (POLG) | ENSP00000489799.1:n.*2326A>G | |
| ENST00000637238.1:c.2630A>G (POLG) | ENSP00000490756.1:n.2630A>G | |
| ENST00000637264.1:c.2734A>G (POLG) | ||
| ENST00000666746.1:c.3299A>G (POLG) | ||
| ENST00000672071.1:n.4924A>G (POLG) | ||
| ENST00000672695.1:n.1501A>G (POLG) | ||
| ENST00000672923.2:n.3722A>G (POLG) | ||
| ENST00000675352.1:n.3482T>C (FANCI) | ||
| ENST00000676003.1:c.*290T>C (FANCI) | ENSP00000502254.1:n.*290T>C | |
| ENST00000676110.1:n.3858T>C (FANCI) | ||
| ENST00000268124.9:c.*2A>G (POLG) | ENSP00000268124.5:n.*2A>G | |
| ENST00000300027.12:c.*290T>C (FANCI) | ENSP00000300027.8:n.*290T>C | |
| ENST00000310775.11:c.*290T>C (FANCI) | ENSP00000310842.7:n.*290T>C | |
| ENST00000442287.6:c.*2A>G (POLG) | ENSP00000399851.2:n.*2A>G | |
| ENST00000526671.1:n.532A>G (POLG) | ||
| ENST00000530292.2:c.905A>G (POLG) | ENSP00000432885.1:n.905A>G | |
| ENST00000566895.5:n.4284T>C (FANCI) | ||
| ENST00000631044.2:c.*3146A>G (POLG) | ENSP00000486730.1:n.*3146A>G | |
| NM_001113378.1:c.*290T>C , LRG_500t1:c.*290T>C (FANCI) | NP_001106849.1:n.*290T>C | |
| NM_001126131.1:c.*2A>G (POLG) | NP_001119603.1:n.*2A>G | |
| NM_002693.2:c.*2A>G (POLG) | NP_002684.1:n.*2A>G | |
| NM_018193.2:c.*290T>C (FANCI) | NP_060663.2:n.*290T>C | |
| XM_011521756.1:c.*290T>C (FANCI) | XP_011520058.1:n.*290T>C | |
| XM_011521757.1:c.*290T>C (FANCI) | XP_011520059.1:n.*290T>C | |
| XM_011521758.1:c.*290T>C (FANCI) | XP_011520060.1:n.*290T>C | |
| XM_011521759.1:c.*290T>C (FANCI) | XP_011520061.1:n.*290T>C | |
| XM_011521760.1:c.*290T>C (FANCI) | XP_011520062.1:n.*290T>C | |
| XM_011521761.1:c.*290T>C (FANCI) | XP_011520063.1:n.*290T>C | |
| XM_011521762.1:c.*290T>C (FANCI) | XP_011520064.1:n.*290T>C | |
| XM_011521763.1:c.*290T>C (FANCI) | XP_011520065.1:n.*290T>C | |
| XM_011521764.1:c.*290T>C (FANCI) | XP_011520066.1:n.*290T>C | |
| XM_011521765.1:c.*290T>C (FANCI) | XP_011520067.1:n.*290T>C | |
| XM_011521766.1:c.*290T>C (FANCI) | XP_011520068.1:n.*290T>C | |
| XM_011521767.1:c.*290T>C (FANCI) | XP_011520069.1:n.*290T>C | |
| XM_011521769.1:c.*290T>C (FANCI) | XP_011520071.1:n.*290T>C | |
| XM_011521756.2:c.*290T>C (FANCI) | XP_011520058.1:n.*290T>C | |
| XM_011521757.2:c.*290T>C (FANCI) | XP_011520059.1:n.*290T>C | |
| XM_011521764.2:c.*290T>C (FANCI) | XP_011520066.1:n.*290T>C | |
| XM_011521767.2:c.*290T>C (FANCI) | XP_011520069.1:n.*290T>C | |
| NM_001113378.2:c.*290T>C (FANCI) MANE Select | NP_001106849.1:n.*290T>C | |
| NM_001126131.2:c.*2A>G (POLG) | NP_001119603.1:n.*2A>G | |
| NM_001376910.1:c.*290T>C (FANCI) | NP_001363839.1:n.*290T>C | |
| NM_001376911.1:c.*290T>C (FANCI) | NP_001363840.1:n.*290T>C | |
| NM_018193.3:c.*290T>C (FANCI) | NP_060663.2:n.*290T>C | |
| NM_002693.3:c.*2A>G (POLG) MANE Select | NP_002684.1:n.*2A>G |