Linked Data
ClinVar Variation Id:
206575
dbSNP Id:
rs199751339
ExAC:
15:89860052 G / A
gnomAD v2:
15-89860052-G-A
gnomAD v3:
15-89316821-G-A
gnomAD v4:
15-89316821-G-A
COSMIC:
COSM284133
PubMed:
PMID:23524600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89316821G>A , CM000677.2:g.89316821G>A | GRCh38 |
| NC_000015.9:g.89860052G>A , CM000677.1:g.89860052G>A | GRCh37 |
| NC_000015.8:g.87661056G>A | NCBI36 |
| NG_008218.1:g.22975C>T | |
| NG_011736.1:g.77859G>A , LRG_500:g.77859G>A | |
| NG_008218.2:g.22975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3650C>T (POLG) | ENSP00000516154.1:p.Ala1217Val | |
| ENST00000696717.1:c.*362G>A (FANCI) | ENSP00000512830.1:n.*362G>A | |
| ENST00000696718.1:c.*362G>A (FANCI) | ENSP00000512831.1:n.*362G>A | |
| ENST00000696719.1:c.*362G>A (FANCI) | ENSP00000512832.1:n.*362G>A | |
| ENST00000268124.11:c.3650C>T (POLG) MANE Select | ENSP00000268124.5:p.Ala1217Val | |
| ENST00000310775.12:c.*362G>A (FANCI) MANE Select | ENSP00000310842.8:n.*362G>A | |
| ENST00000530292.3:c.3350C>T (POLG) | ENSP00000432885.2:n.3350C>T | |
| ENST00000635986.2:c.*720C>T (POLG) | ENSP00000490653.2:n.*720C>T | |
| ENST00000636774.1:c.*2254C>T (POLG) | ENSP00000489799.1:n.*2254C>T | |
| ENST00000637238.1:c.2558C>T (POLG) | ENSP00000490756.1:n.2558C>T | |
| ENST00000637264.1:c.2662C>T (POLG) | ||
| ENST00000666746.1:c.3227C>T (POLG) | ||
| ENST00000672071.1:n.4852C>T (POLG) | ||
| ENST00000672695.1:n.1429C>T (POLG) | ||
| ENST00000672923.2:n.3650C>T (POLG) | ||
| ENST00000675352.1:n.3554G>A (FANCI) | ||
| ENST00000676003.1:c.*362G>A (FANCI) | ENSP00000502254.1:n.*362G>A | |
| ENST00000676110.1:n.3930G>A (FANCI) | ||
| ENST00000268124.9:c.3650C>T (POLG) | ENSP00000268124.5:p.Ala1217Val | |
| ENST00000300027.12:c.*362G>A (FANCI) | ENSP00000300027.8:n.*362G>A | |
| ENST00000310775.11:c.*362G>A (FANCI) | ENSP00000310842.7:n.*362G>A | |
| ENST00000442287.6:c.3650C>T (POLG) | ENSP00000399851.2:p.Ala1217Val | |
| ENST00000526671.1:n.460C>T (POLG) | ||
| ENST00000530292.2:c.833C>T (POLG) | ENSP00000432885.1:n.833C>T | |
| ENST00000566895.5:n.4356G>A (FANCI) | ||
| ENST00000631044.2:c.*3074C>T (POLG) | ENSP00000486730.1:n.*3074C>T | |
| NM_001113378.1:c.*362G>A , LRG_500t1:c.*362G>A (FANCI) | NP_001106849.1:n.*362G>A | |
| NM_001126131.1:c.3650C>T (POLG) | NP_001119603.1:p.Ala1217Val | |
| NM_002693.2:c.3650C>T (POLG) | NP_002684.1:p.Ala1217Val | |
| NM_018193.2:c.*362G>A (FANCI) | NP_060663.2:n.*362G>A | |
| XM_011521756.1:c.*362G>A (FANCI) | XP_011520058.1:n.*362G>A | |
| XM_011521757.1:c.*362G>A (FANCI) | XP_011520059.1:n.*362G>A | |
| XM_011521758.1:c.*362G>A (FANCI) | XP_011520060.1:n.*362G>A | |
| XM_011521759.1:c.*362G>A (FANCI) | XP_011520061.1:n.*362G>A | |
| XM_011521760.1:c.*362G>A (FANCI) | XP_011520062.1:n.*362G>A | |
| XM_011521761.1:c.*362G>A (FANCI) | XP_011520063.1:n.*362G>A | |
| XM_011521762.1:c.*362G>A (FANCI) | XP_011520064.1:n.*362G>A | |
| XM_011521763.1:c.*362G>A (FANCI) | XP_011520065.1:n.*362G>A | |
| XM_011521764.1:c.*362G>A (FANCI) | XP_011520066.1:n.*362G>A | |
| XM_011521765.1:c.*362G>A (FANCI) | XP_011520067.1:n.*362G>A | |
| XM_011521766.1:c.*362G>A (FANCI) | XP_011520068.1:n.*362G>A | |
| XM_011521767.1:c.*362G>A (FANCI) | XP_011520069.1:n.*362G>A | |
| XM_011521769.1:c.*362G>A (FANCI) | XP_011520071.1:n.*362G>A | |
| XM_011521756.2:c.*362G>A (FANCI) | XP_011520058.1:n.*362G>A | |
| XM_011521757.2:c.*362G>A (FANCI) | XP_011520059.1:n.*362G>A | |
| XM_011521764.2:c.*362G>A (FANCI) | XP_011520066.1:n.*362G>A | |
| XM_011521767.2:c.*362G>A (FANCI) | XP_011520069.1:n.*362G>A | |
| NM_001113378.2:c.*362G>A (FANCI) MANE Select | NP_001106849.1:n.*362G>A | |
| NM_001126131.2:c.3650C>T (POLG) | NP_001119603.1:p.Ala1217Val | |
| NM_001376910.1:c.*362G>A (FANCI) | NP_001363839.1:n.*362G>A | |
| NM_001376911.1:c.*362G>A (FANCI) | NP_001363840.1:n.*362G>A | |
| NM_018193.3:c.*362G>A (FANCI) | NP_060663.2:n.*362G>A | |
| NM_002693.3:c.3650C>T (POLG) MANE Select | NP_002684.1:p.Ala1217Val |