Linked Data
ClinVar Variation Id:
512412
dbSNP Id:
rs139341447
ExAC:
14:74424866 C / T
gnomAD v2:
14-74424866-C-T
gnomAD v3:
14-73958163-C-T
gnomAD v4:
14-73958163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73958163C>T , CM000676.2:g.73958163C>T | GRCh38 |
| NC_000014.8:g.74424866C>T , CM000676.1:g.74424866C>T | GRCh37 |
| NC_000014.7:g.73494619C>T | NCBI36 |
| NG_032805.1:g.13230C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.498C>T (COQ6) MANE Select | ENSP00000333946.2:p.Leu166= | |
| ENST00000238709.8:c.495C>T (COQ6) | ENSP00000238709.5:p.Leu165= | |
| ENST00000334571.6:c.498C>T (COQ6) | ENSP00000333946.2:p.Leu166= | |
| ENST00000394026.8:c.423C>T (COQ6) | ENSP00000377594.4:p.Leu141= | |
| ENST00000553462.6:n.346C>T (COQ6) | ||
| ENST00000554153.5:c.*103C>T (COQ6) | ENSP00000451685.1:n.*103C>T | |
| ENST00000554320.1:c.273C>T (COQ6) | ENSP00000451123.1:p.Leu91= | |
| ENST00000554341.6:c.*103C>T (COQ6) | ENSP00000450736.2:n.*103C>T | |
| ENST00000554920.5:c.481+2235C>T (COQ6) | ENSP00000451562.1:n.481+2235C>T | |
| ENST00000555511.5:n.616C>T (COQ6) | ||
| ENST00000556300.6:n.532C>T (COQ6) | ||
| ENST00000557205.6:n.462C>T (COQ6) | ||
| ENST00000557325.5:c.*1367G>A (ENTPD5) | ENSP00000451810.1:n.*1367G>A | |
| ENST00000557584.5:c.*103C>T (COQ6) | ENSP00000450511.1:n.*103C>T | |
| ENST00000629426.2:c.273C>T (COQ6) | ENSP00000486650.1:p.Leu91= | |
| NM_182476.2:c.498C>T (COQ6) | NP_872282.1:p.Leu166= | |
| NM_182480.2:c.423C>T (COQ6) | NP_872286.2:p.Leu141= | |
| XM_005267716.1:c.333C>T (COQ6) | XP_005267773.1:p.Leu111= | |
| XM_006720156.1:c.171C>T (COQ6) | XP_006720219.1:p.Leu57= | |
| XM_011536807.1:c.498C>T (COQ6) | XP_011535109.1:p.Leu166= | |
| XM_011536808.1:c.273C>T (COQ6) | XP_011535110.1:p.Leu91= | |
| XM_011536809.1:c.273C>T (COQ6) | XP_011535111.1:p.Leu91= | |
| XM_011536810.1:c.498C>T (COQ6) | XP_011535112.1:p.Leu166= | |
| XM_011536811.1:c.73-808C>T (COQ6) | XP_011535113.1:n.73-808C>T | |
| XR_943465.1:n.551C>T (COQ6) | ||
| XR_943466.1:n.551C>T (COQ6) | ||
| NM_001330189.1:c.*1367G>A (ENTPD5) | NP_001317118.1:n.*1367G>A | |
| XM_011536807.2:c.498C>T (COQ6) | XP_011535109.1:p.Leu166= | |
| XM_011536808.2:c.273C>T (COQ6) | XP_011535110.1:p.Leu91= | |
| XM_011536809.3:c.273C>T (COQ6) | XP_011535111.1:p.Leu91= | |
| XM_011536810.3:c.498C>T (COQ6) | XP_011535112.1:p.Leu166= | |
| XM_017021351.2:c.73-808C>T (COQ6) | XP_016876840.1:n.73-808C>T | |
| XM_017021352.2:c.-802C>T (COQ6) | XP_016876841.1:n.-802C>T | |
| XM_024449619.1:c.-251C>T (COQ6) | XP_024305387.1:n.-251C>T | |
| XR_001750342.1:n.462C>T (COQ6) | ||
| XR_943465.3:n.528C>T (COQ6) | ||
| XR_943466.3:n.528C>T (COQ6) | ||
| NM_001330189.2:c.*1367G>A (ENTPD5) | NP_001317118.1:n.*1367G>A | |
| NM_182476.3:c.498C>T (COQ6) MANE Select | NP_872282.1:p.Leu166= | |
| NM_001382258.1:c.1201-2576G>A (ENTPD5) | NP_001369187.1:n.1201-2576G>A | |
| NM_001382259.1:c.*1367G>A (ENTPD5) | NP_001369188.1:n.*1367G>A | |
| NM_001382260.1:c.*1367G>A (ENTPD5) | NP_001369189.1:n.*1367G>A | |
| NM_001382262.1:c.1201-2335G>A (ENTPD5) | NP_001369191.1:n.1201-2335G>A | |
| NM_182480.3:c.423C>T (COQ6) | NP_872286.2:p.Leu141= |