Linked Data
ClinVar Variation Id:
377743
dbSNP Id:
rs148281229
ExAC:
14:74426177 A / G
gnomAD v2:
14-74426177-A-G
gnomAD v3:
14-73959474-A-G
gnomAD v4:
14-73959474-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73959474A>G , CM000676.2:g.73959474A>G | GRCh38 |
| NC_000014.8:g.74426177A>G , CM000676.1:g.74426177A>G | GRCh37 |
| NC_000014.7:g.73495930A>G | NCBI36 |
| NG_032805.1:g.14541A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.843A>G (COQ6) MANE Select | ENSP00000333946.2:p.Leu281= | |
| ENST00000238709.8:c.840A>G (COQ6) | ENSP00000238709.5:p.Leu280= | |
| ENST00000334571.6:c.843A>G (COQ6) | ENSP00000333946.2:p.Leu281= | |
| ENST00000394026.8:c.768A>G (COQ6) | ENSP00000377594.4:p.Leu256= | |
| ENST00000553448.1:n.295A>G (COQ6) | ||
| ENST00000554320.1:c.618A>G (COQ6) | ENSP00000451123.1:p.Leu206= | |
| ENST00000554341.6:c.*448A>G (COQ6) | ENSP00000450736.2:n.*448A>G | |
| ENST00000554920.5:c.482-3496A>G (COQ6) | ENSP00000451562.1:n.482-3496A>G | |
| ENST00000555511.5:n.961A>G (COQ6) | ||
| ENST00000556588.5:n.793A>G (COQ6) | ||
| ENST00000557325.5:c.*56T>C (ENTPD5) | ENSP00000451810.1:n.*56T>C | |
| ENST00000557584.5:c.*638A>G (COQ6) | ENSP00000450511.1:n.*638A>G | |
| ENST00000629426.2:c.618A>G (COQ6) | ENSP00000486650.1:p.Leu206= | |
| NM_182476.2:c.843A>G (COQ6) | NP_872282.1:p.Leu281= | |
| NM_182480.2:c.768A>G (COQ6) | NP_872286.2:p.Leu256= | |
| XM_005267716.1:c.678A>G (COQ6) | XP_005267773.1:p.Leu226= | |
| XM_006720156.1:c.516A>G (COQ6) | XP_006720219.1:p.Leu172= | |
| XM_006720325.2:c.*56T>C (ENTPD5) | XP_006720388.1:n.*56T>C | |
| XM_011536807.1:c.783+250A>G (COQ6) | XP_011535109.1:n.783+250A>G | |
| XM_011536808.1:c.618A>G (COQ6) | XP_011535110.1:p.Leu206= | |
| XM_011536809.1:c.618A>G (COQ6) | XP_011535111.1:p.Leu206= | |
| XM_011536810.1:c.843A>G (COQ6) | XP_011535112.1:p.Leu281= | |
| XM_011536811.1:c.303A>G (COQ6) | XP_011535113.1:p.Leu101= | |
| XR_943465.1:n.896A>G (COQ6) | ||
| XR_943466.1:n.896A>G (COQ6) | ||
| NM_001330189.1:c.*56T>C (ENTPD5) | NP_001317118.1:n.*56T>C | |
| XM_006720325.3:c.*56T>C (ENTPD5) | XP_006720388.1:n.*56T>C | |
| XM_011536807.2:c.783+250A>G (COQ6) | XP_011535109.1:n.783+250A>G | |
| XM_011536808.2:c.618A>G (COQ6) | XP_011535110.1:p.Leu206= | |
| XM_011536809.3:c.618A>G (COQ6) | XP_011535111.1:p.Leu206= | |
| XM_011536810.3:c.843A>G (COQ6) | XP_011535112.1:p.Leu281= | |
| XM_017021351.2:c.303A>G (COQ6) | XP_016876840.1:p.Leu101= | |
| XM_017021352.2:c.237A>G (COQ6) | XP_016876841.1:p.Leu79= | |
| XM_017021814.1:c.*56T>C (ENTPD5) | XP_016877303.1:n.*56T>C | |
| XM_017021817.1:c.*56T>C (ENTPD5) | XP_016877306.1:n.*56T>C | |
| XM_024449619.1:c.237A>G (COQ6) | XP_024305387.1:p.Leu79= | |
| XR_001750342.1:n.997A>G (COQ6) | ||
| XR_943465.3:n.873A>G (COQ6) | ||
| XR_943466.3:n.873A>G (COQ6) | ||
| NM_001330189.2:c.*56T>C (ENTPD5) | NP_001317118.1:n.*56T>C | |
| NM_182476.3:c.843A>G (COQ6) MANE Select | NP_872282.1:p.Leu281= | |
| NM_001382258.1:c.1201-3887T>C (ENTPD5) | NP_001369187.1:n.1201-3887T>C | |
| NM_001382259.1:c.*56T>C (ENTPD5) | NP_001369188.1:n.*56T>C | |
| NM_001382260.1:c.*56T>C (ENTPD5) | NP_001369189.1:n.*56T>C | |
| NM_001382262.1:c.1201-3646T>C (ENTPD5) | NP_001369191.1:n.1201-3646T>C | |
| NM_182480.3:c.768A>G (COQ6) | NP_872286.2:p.Leu256= |