Linked Data
ClinVar Variation Id:
214235
dbSNP Id:
rs140725181
ExAC:
14:74422586 G / T
gnomAD v2:
14-74422586-G-T
gnomAD v3:
14-73955883-G-T
gnomAD v4:
14-73955883-G-T
COSMIC:
COSM1202089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73955883G>T , CM000676.2:g.73955883G>T | GRCh38 |
| NC_000014.8:g.74422586G>T , CM000676.1:g.74422586G>T | GRCh37 |
| NC_000014.7:g.73492339G>T | NCBI36 |
| NG_032805.1:g.10950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.436G>T (COQ6) MANE Select | ENSP00000333946.2:p.Asp146Tyr | |
| ENST00000238709.8:c.433G>T (COQ6) | ENSP00000238709.5:p.Asp145Tyr | |
| ENST00000334571.6:c.436G>T (COQ6) | ENSP00000333946.2:p.Asp146Tyr | |
| ENST00000394026.8:c.361G>T (COQ6) | ENSP00000377594.4:p.Asp121Tyr | |
| ENST00000553462.6:n.284G>T (COQ6) | ||
| ENST00000553922.5:n.856G>T (COQ6) | ||
| ENST00000554153.5:c.*41G>T (COQ6) | ENSP00000451685.1:n.*41G>T | |
| ENST00000554193.5:n.459G>T (COQ6) | ||
| ENST00000554320.1:c.211G>T (COQ6) | ENSP00000451123.1:p.Asp71Tyr | |
| ENST00000554341.6:c.*41G>T (COQ6) | ENSP00000450736.2:n.*41G>T | |
| ENST00000554920.5:c.436G>T (COQ6) | ENSP00000451562.1:p.Asp146Tyr | |
| ENST00000555196.5:c.*105G>T (COQ6) | ENSP00000451301.1:n.*105G>T | |
| ENST00000555392.1:n.211G>T (COQ6) | ||
| ENST00000555511.5:n.554G>T (COQ6) | ||
| ENST00000555552.5:n.459G>T (COQ6) | ||
| ENST00000556300.6:n.470G>T (COQ6) | ||
| ENST00000557205.6:n.400G>T (COQ6) | ||
| ENST00000557584.5:c.*41G>T (COQ6) | ENSP00000450511.1:n.*41G>T | |
| ENST00000629426.2:c.211G>T (COQ6) | ENSP00000486650.1:p.Asp71Tyr | |
| NM_182476.2:c.436G>T (COQ6) | NP_872282.1:p.Asp146Tyr | |
| NM_182480.2:c.361G>T (COQ6) | NP_872286.2:p.Asp121Tyr | |
| XM_005267716.1:c.271G>T (COQ6) | XP_005267773.1:p.Asp91Tyr | |
| XM_006720156.1:c.109G>T (COQ6) | XP_006720219.1:p.Asp37Tyr | |
| XM_011536807.1:c.436G>T (COQ6) | XP_011535109.1:p.Asp146Tyr | |
| XM_011536808.1:c.211G>T (COQ6) | XP_011535110.1:p.Asp71Tyr | |
| XM_011536809.1:c.211G>T (COQ6) | XP_011535111.1:p.Asp71Tyr | |
| XM_011536810.1:c.436G>T (COQ6) | XP_011535112.1:p.Asp146Tyr | |
| XM_011536811.1:c.27G>T (COQ6) | XP_011535113.1:p.Met9Ile | |
| XR_943465.1:n.489G>T (COQ6) | ||
| XR_943466.1:n.489G>T (COQ6) | ||
| XM_011536807.2:c.436G>T (COQ6) | XP_011535109.1:p.Asp146Tyr | |
| XM_011536808.2:c.211G>T (COQ6) | XP_011535110.1:p.Asp71Tyr | |
| XM_011536809.3:c.211G>T (COQ6) | XP_011535111.1:p.Asp71Tyr | |
| XM_011536810.3:c.436G>T (COQ6) | XP_011535112.1:p.Asp146Tyr | |
| XM_017021351.2:c.27G>T (COQ6) | XP_016876840.1:p.Met9Ile | |
| XM_017021352.2:c.-864G>T (COQ6) | XP_016876841.1:n.-864G>T | |
| XM_024449619.1:c.-313G>T (COQ6) | XP_024305387.1:n.-313G>T | |
| XR_001750342.1:n.400G>T (COQ6) | ||
| XR_943465.3:n.466G>T (COQ6) | ||
| XR_943466.3:n.466G>T (COQ6) | ||
| NM_182476.3:c.436G>T (COQ6) MANE Select | NP_872282.1:p.Asp146Tyr | |
| NM_001382258.1:c.1201-296C>A (ENTPD5) | NP_001369187.1:n.1201-296C>A | |
| NM_001382262.1:c.1201-55C>A (ENTPD5) | NP_001369191.1:n.1201-55C>A | |
| NM_182480.3:c.361G>T (COQ6) | NP_872286.2:p.Asp121Tyr |