Linked Data
ClinVar Variation Id:
408231
dbSNP Id:
rs369058619
ExAC:
15:89859649 G / A
gnomAD v2:
15-89859649-G-A
gnomAD v3:
15-89316418-G-A
gnomAD v4:
15-89316418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89316418G>A , CM000677.2:g.89316418G>A | GRCh38 |
| NC_000015.9:g.89859649G>A , CM000677.1:g.89859649G>A | GRCh37 |
| NC_000015.8:g.87660653G>A | NCBI36 |
| NG_008218.1:g.23378C>T | |
| NG_011736.1:g.77456G>A , LRG_500:g.77456G>A | |
| NG_008218.2:g.23378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.*333C>T (POLG) | ENSP00000516154.1:n.*333C>T | |
| ENST00000696717.1:c.3667G>A (FANCI) | ENSP00000512830.1:p.Gly1223Arg | |
| ENST00000696718.1:c.3409G>A (FANCI) | ENSP00000512831.1:p.Gly1137Arg | |
| ENST00000696719.1:c.3946G>A (FANCI) | ENSP00000512832.1:p.Gly1316Arg | |
| ENST00000696721.1:n.5531G>A (FANCI) | ||
| ENST00000268124.11:c.*333C>T (POLG) MANE Select | ENSP00000268124.5:n.*333C>T | |
| ENST00000310775.12:c.3946G>A (FANCI) MANE Select | ENSP00000310842.8:p.Gly1316Arg | |
| ENST00000530292.3:c.3753C>T (POLG) | ENSP00000432885.2:n.3753C>T | |
| ENST00000635831.1:c.73+288C>T (POLG) | ||
| ENST00000635986.2:c.*1123C>T (POLG) | ENSP00000490653.2:n.*1123C>T | |
| ENST00000637238.1:c.2961C>T (POLG) | ENSP00000490756.1:n.2961C>T | |
| ENST00000637264.1:c.3065C>T (POLG) | ||
| ENST00000666746.1:c.3630C>T (POLG) | ||
| ENST00000672071.1:n.5255C>T (POLG) | ||
| ENST00000672695.1:n.1832C>T (POLG) | ||
| ENST00000672923.2:n.4053C>T (POLG) | ||
| ENST00000674831.1:c.4078G>A (FANCI) | ENSP00000502474.1:p.Gly1360Arg | |
| ENST00000675352.1:n.3151G>A (FANCI) | ||
| ENST00000676003.1:c.3904G>A (FANCI) | ENSP00000502254.1:p.Gly1302Arg | |
| ENST00000676110.1:n.3527G>A (FANCI) | ||
| ENST00000268124.9:c.*333C>T (POLG) | ENSP00000268124.5:n.*333C>T | |
| ENST00000300027.12:c.3766G>A (FANCI) | ENSP00000300027.8:p.Gly1256Arg | |
| ENST00000310775.11:c.3946G>A (FANCI) | ENSP00000310842.7:p.Gly1316Arg | |
| ENST00000442287.6:c.*333C>T (POLG) | ENSP00000399851.2:n.*333C>T | |
| ENST00000447611.6:c.*290G>A (FANCI) | ENSP00000413249.2:n.*290G>A | |
| ENST00000530292.2:c.1236C>T (POLG) | ENSP00000432885.1:n.1236C>T | |
| ENST00000561894.1:c.3242G>A (FANCI) | ||
| ENST00000566615.1:n.529G>A (FANCI) | ||
| ENST00000566895.5:n.3953G>A (FANCI) | ||
| ENST00000631044.2:c.*3477C>T (POLG) | ENSP00000486730.1:n.*3477C>T | |
| NM_001113378.1:c.3946G>A , LRG_500t1:c.3946G>A (FANCI) | NP_001106849.1:p.Gly1316Arg | |
| NM_001126131.1:c.*333C>T (POLG) | NP_001119603.1:n.*333C>T | |
| NM_002693.2:c.*333C>T (POLG) | NP_002684.1:n.*333C>T | |
| NM_018193.2:c.3766G>A (FANCI) | NP_060663.2:p.Gly1256Arg | |
| XM_011521756.1:c.3946G>A (FANCI) | XP_011520058.1:p.Gly1316Arg | |
| XM_011521757.1:c.3946G>A (FANCI) | XP_011520059.1:p.Gly1316Arg | |
| XM_011521758.1:c.3946G>A (FANCI) | XP_011520060.1:p.Gly1316Arg | |
| XM_011521759.1:c.3946G>A (FANCI) | XP_011520061.1:p.Gly1316Arg | |
| XM_011521760.1:c.3946G>A (FANCI) | XP_011520062.1:p.Gly1316Arg | |
| XM_011521761.1:c.3946G>A (FANCI) | XP_011520063.1:p.Gly1316Arg | |
| XM_011521762.1:c.3946G>A (FANCI) | XP_011520064.1:p.Gly1316Arg | |
| XM_011521763.1:c.3904G>A (FANCI) | XP_011520065.1:p.Gly1302Arg | |
| XM_011521764.1:c.3766G>A (FANCI) | XP_011520066.1:p.Gly1256Arg | |
| XM_011521765.1:c.3667G>A (FANCI) | XP_011520067.1:p.Gly1223Arg | |
| XM_011521766.1:c.3667G>A (FANCI) | XP_011520068.1:p.Gly1223Arg | |
| XM_011521767.1:c.3667G>A (FANCI) | XP_011520069.1:p.Gly1223Arg | |
| XM_011521769.1:c.3601G>A (FANCI) | XP_011520071.1:p.Gly1201Arg | |
| XM_011521756.2:c.3946G>A (FANCI) | XP_011520058.1:p.Gly1316Arg | |
| XM_011521757.2:c.3946G>A (FANCI) | XP_011520059.1:p.Gly1316Arg | |
| XM_011521764.2:c.3766G>A (FANCI) | XP_011520066.1:p.Gly1256Arg | |
| XM_011521767.2:c.3667G>A (FANCI) | XP_011520069.1:p.Gly1223Arg | |
| NM_001113378.2:c.3946G>A (FANCI) MANE Select | NP_001106849.1:p.Gly1316Arg | |
| NM_001126131.2:c.*333C>T (POLG) | NP_001119603.1:n.*333C>T | |
| NM_001376910.1:c.3667G>A (FANCI) | NP_001363839.1:p.Gly1223Arg | |
| NM_001376911.1:c.3946G>A (FANCI) | NP_001363840.1:p.Gly1316Arg | |
| NM_018193.3:c.3766G>A (FANCI) | NP_060663.2:p.Gly1256Arg | |
| NM_002693.3:c.*333C>T (POLG) MANE Select | NP_002684.1:n.*333C>T |