Linked Data
ClinVar Variation Id:
1427545
dbSNP Id:
rs569063066
ExAC:
15:89860053 C / G
gnomAD v2:
15-89860053-C-G
gnomAD v3:
15-89316822-C-G
gnomAD v4:
15-89316822-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89316822C>G , CM000677.2:g.89316822C>G | GRCh38 |
| NC_000015.9:g.89860053C>G , CM000677.1:g.89860053C>G | GRCh37 |
| NC_000015.8:g.87661057C>G | NCBI36 |
| NG_008218.1:g.22974G>C | |
| NG_011736.1:g.77860C>G , LRG_500:g.77860C>G | |
| NG_008218.2:g.22974G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3649G>C (POLG) | ENSP00000516154.1:p.Ala1217Pro | |
| ENST00000696717.1:c.*363C>G (FANCI) | ENSP00000512830.1:n.*363C>G | |
| ENST00000696718.1:c.*363C>G (FANCI) | ENSP00000512831.1:n.*363C>G | |
| ENST00000696719.1:c.*363C>G (FANCI) | ENSP00000512832.1:n.*363C>G | |
| ENST00000268124.11:c.3649G>C (POLG) MANE Select | ENSP00000268124.5:p.Ala1217Pro | |
| ENST00000310775.12:c.*363C>G (FANCI) MANE Select | ENSP00000310842.8:n.*363C>G | |
| ENST00000530292.3:c.3349G>C (POLG) | ENSP00000432885.2:n.3349G>C | |
| ENST00000635986.2:c.*719G>C (POLG) | ENSP00000490653.2:n.*719G>C | |
| ENST00000636774.1:c.*2253G>C (POLG) | ENSP00000489799.1:n.*2253G>C | |
| ENST00000637238.1:c.2557G>C (POLG) | ENSP00000490756.1:n.2557G>C | |
| ENST00000637264.1:c.2661G>C (POLG) | ||
| ENST00000666746.1:c.3226G>C (POLG) | ||
| ENST00000672071.1:n.4851G>C (POLG) | ||
| ENST00000672695.1:n.1428G>C (POLG) | ||
| ENST00000672923.2:n.3649G>C (POLG) | ||
| ENST00000675352.1:n.3555C>G (FANCI) | ||
| ENST00000676003.1:c.*363C>G (FANCI) | ENSP00000502254.1:n.*363C>G | |
| ENST00000676110.1:n.3931C>G (FANCI) | ||
| ENST00000268124.9:c.3649G>C (POLG) | ENSP00000268124.5:p.Ala1217Pro | |
| ENST00000300027.12:c.*363C>G (FANCI) | ENSP00000300027.8:n.*363C>G | |
| ENST00000310775.11:c.*363C>G (FANCI) | ENSP00000310842.7:n.*363C>G | |
| ENST00000442287.6:c.3649G>C (POLG) | ENSP00000399851.2:p.Ala1217Pro | |
| ENST00000526671.1:n.459G>C (POLG) | ||
| ENST00000530292.2:c.832G>C (POLG) | ENSP00000432885.1:n.832G>C | |
| ENST00000566895.5:n.4357C>G (FANCI) | ||
| ENST00000631044.2:c.*3073G>C (POLG) | ENSP00000486730.1:n.*3073G>C | |
| NM_001113378.1:c.*363C>G , LRG_500t1:c.*363C>G (FANCI) | NP_001106849.1:n.*363C>G | |
| NM_001126131.1:c.3649G>C (POLG) | NP_001119603.1:p.Ala1217Pro | |
| NM_002693.2:c.3649G>C (POLG) | NP_002684.1:p.Ala1217Pro | |
| NM_018193.2:c.*363C>G (FANCI) | NP_060663.2:n.*363C>G | |
| XM_011521756.1:c.*363C>G (FANCI) | XP_011520058.1:n.*363C>G | |
| XM_011521757.1:c.*363C>G (FANCI) | XP_011520059.1:n.*363C>G | |
| XM_011521758.1:c.*363C>G (FANCI) | XP_011520060.1:n.*363C>G | |
| XM_011521759.1:c.*363C>G (FANCI) | XP_011520061.1:n.*363C>G | |
| XM_011521760.1:c.*363C>G (FANCI) | XP_011520062.1:n.*363C>G | |
| XM_011521761.1:c.*363C>G (FANCI) | XP_011520063.1:n.*363C>G | |
| XM_011521762.1:c.*363C>G (FANCI) | XP_011520064.1:n.*363C>G | |
| XM_011521763.1:c.*363C>G (FANCI) | XP_011520065.1:n.*363C>G | |
| XM_011521764.1:c.*363C>G (FANCI) | XP_011520066.1:n.*363C>G | |
| XM_011521765.1:c.*363C>G (FANCI) | XP_011520067.1:n.*363C>G | |
| XM_011521766.1:c.*363C>G (FANCI) | XP_011520068.1:n.*363C>G | |
| XM_011521767.1:c.*363C>G (FANCI) | XP_011520069.1:n.*363C>G | |
| XM_011521769.1:c.*363C>G (FANCI) | XP_011520071.1:n.*363C>G | |
| XM_011521756.2:c.*363C>G (FANCI) | XP_011520058.1:n.*363C>G | |
| XM_011521757.2:c.*363C>G (FANCI) | XP_011520059.1:n.*363C>G | |
| XM_011521764.2:c.*363C>G (FANCI) | XP_011520066.1:n.*363C>G | |
| XM_011521767.2:c.*363C>G (FANCI) | XP_011520069.1:n.*363C>G | |
| NM_001113378.2:c.*363C>G (FANCI) MANE Select | NP_001106849.1:n.*363C>G | |
| NM_001126131.2:c.3649G>C (POLG) | NP_001119603.1:p.Ala1217Pro | |
| NM_001376910.1:c.*363C>G (FANCI) | NP_001363839.1:n.*363C>G | |
| NM_001376911.1:c.*363C>G (FANCI) | NP_001363840.1:n.*363C>G | |
| NM_018193.3:c.*363C>G (FANCI) | NP_060663.2:n.*363C>G | |
| NM_002693.3:c.3649G>C (POLG) MANE Select | NP_002684.1:p.Ala1217Pro |