Linked Data
ClinVar Variation Id:
214237
dbSNP Id:
rs767940412
ExAC:
14:74427901 T / C
gnomAD v2:
14-74427901-T-C
gnomAD v3:
14-73961198-T-C
gnomAD v4:
14-73961198-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73961198T>C , CM000676.2:g.73961198T>C | GRCh38 |
| NC_000014.8:g.74427901T>C , CM000676.1:g.74427901T>C | GRCh37 |
| NC_000014.7:g.73497654T>C | NCBI36 |
| NG_032805.1:g.16265T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.917T>C (COQ6) MANE Select | ENSP00000333946.2:p.Phe306Ser | |
| ENST00000238709.8:c.914T>C (COQ6) | ENSP00000238709.5:p.Phe305Ser | |
| ENST00000334571.6:c.917T>C (COQ6) | ENSP00000333946.2:p.Phe306Ser | |
| ENST00000394026.8:c.842T>C (COQ6) | ENSP00000377594.4:p.Phe281Ser | |
| ENST00000554320.1:c.692T>C (COQ6) | ENSP00000451123.1:p.Phe231Ser | |
| ENST00000554341.6:c.*522T>C (COQ6) | ENSP00000450736.2:n.*522T>C | |
| ENST00000554920.5:c.482-1772T>C (COQ6) | ENSP00000451562.1:n.482-1772T>C | |
| ENST00000555511.5:n.1035T>C (COQ6) | ||
| ENST00000555829.5:c.577A>G (ENTPD5) | ||
| ENST00000556299.1:n.128T>C (COQ6) | ||
| ENST00000556588.5:n.2517T>C (COQ6) | ||
| ENST00000557325.5:c.1201-1645A>G (ENTPD5) | ENSP00000451810.1:n.1201-1645A>G | |
| ENST00000557780.5:n.50T>C (COQ6) | ||
| ENST00000629426.2:c.692T>C (COQ6) | ENSP00000486650.1:p.Phe231Ser | |
| NM_182476.2:c.917T>C (COQ6) | NP_872282.1:p.Phe306Ser | |
| NM_182480.2:c.842T>C (COQ6) | NP_872286.2:p.Phe281Ser | |
| XM_005267716.1:c.752T>C (COQ6) | XP_005267773.1:p.Phe251Ser | |
| XM_006720156.1:c.590T>C (COQ6) | XP_006720219.1:p.Phe197Ser | |
| XM_006720325.2:c.1201-1645A>G (ENTPD5) | XP_006720388.1:n.1201-1645A>G | |
| XM_011536807.1:c.809T>C (COQ6) | XP_011535109.1:p.Phe270Ser | |
| XM_011536808.1:c.692T>C (COQ6) | XP_011535110.1:p.Phe231Ser | |
| XM_011536809.1:c.692T>C (COQ6) | XP_011535111.1:p.Phe231Ser | |
| XM_011536810.1:c.891+1676T>C (COQ6) | XP_011535112.1:n.891+1676T>C | |
| XM_011536811.1:c.377T>C (COQ6) | XP_011535113.1:p.Phe126Ser | |
| XR_943465.1:n.1212T>C (COQ6) | ||
| XR_943466.1:n.1209T>C (COQ6) | ||
| NM_001321984.1:c.*335A>G (ENTPD5) | NP_001308913.1:n.*335A>G | |
| NM_001330189.1:c.1201-1645A>G (ENTPD5) | NP_001317118.1:n.1201-1645A>G | |
| XM_006720325.3:c.1201-1645A>G (ENTPD5) | XP_006720388.1:n.1201-1645A>G | |
| XM_011536807.2:c.809T>C (COQ6) | XP_011535109.1:p.Phe270Ser | |
| XM_011536808.2:c.692T>C (COQ6) | XP_011535110.1:p.Phe231Ser | |
| XM_011536809.3:c.692T>C (COQ6) | XP_011535111.1:p.Phe231Ser | |
| XM_011536810.3:c.891+1676T>C (COQ6) | XP_011535112.1:n.891+1676T>C | |
| XM_017021351.2:c.377T>C (COQ6) | XP_016876840.1:p.Phe126Ser | |
| XM_017021352.2:c.311T>C (COQ6) | XP_016876841.1:p.Phe104Ser | |
| XM_017021814.1:c.1201-1645A>G (ENTPD5) | XP_016877303.1:n.1201-1645A>G | |
| XM_017021817.1:c.1060-1645A>G (ENTPD5) | XP_016877306.1:n.1060-1645A>G | |
| XM_024449619.1:c.311T>C (COQ6) | XP_024305387.1:p.Phe104Ser | |
| XR_001750342.1:n.1071T>C (COQ6) | ||
| XR_943465.3:n.1189T>C (COQ6) | ||
| XR_943466.3:n.1186T>C (COQ6) | ||
| NM_001321984.2:c.*335A>G (ENTPD5) | NP_001308913.1:n.*335A>G | |
| NM_001330189.2:c.1201-1645A>G (ENTPD5) | NP_001317118.1:n.1201-1645A>G | |
| NM_182476.3:c.917T>C (COQ6) MANE Select | NP_872282.1:p.Phe306Ser | |
| NM_001382258.1:c.1201-5611A>G (ENTPD5) | NP_001369187.1:n.1201-5611A>G | |
| NM_001382259.1:c.1201-1645A>G (ENTPD5) | NP_001369188.1:n.1201-1645A>G | |
| NM_001382260.1:c.1201-1645A>G (ENTPD5) | NP_001369189.1:n.1201-1645A>G | |
| NM_001382262.1:c.1201-5370A>G (ENTPD5) | NP_001369191.1:n.1201-5370A>G | |
| NM_182480.3:c.842T>C (COQ6) | NP_872286.2:p.Phe281Ser |