Linked Data
ClinVar Variation Id:
375341
ClinVar RCV Id:
RCV000416383
dbSNP Id:
rs1057519349
gnomAD v2:
14-74424932-G-A
gnomAD v3:
14-73958229-G-A
gnomAD v4:
14-73958229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73958229G>A , CM000676.2:g.73958229G>A | GRCh38 |
| NC_000014.8:g.74424932G>A , CM000676.1:g.74424932G>A | GRCh37 |
| NC_000014.7:g.73494685G>A | NCBI36 |
| NG_032805.1:g.13296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.564G>A (COQ6) MANE Select | ENSP00000333946.2:p.Trp188Ter | |
| ENST00000238709.8:c.561G>A (COQ6) | ENSP00000238709.5:p.Trp187Ter | |
| ENST00000334571.6:c.564G>A (COQ6) | ENSP00000333946.2:p.Trp188Ter | |
| ENST00000394026.8:c.489G>A (COQ6) | ENSP00000377594.4:p.Trp163Ter | |
| ENST00000553462.6:n.412G>A (COQ6) | ||
| ENST00000554153.5:c.*169G>A (COQ6) | ENSP00000451685.1:n.*169G>A | |
| ENST00000554320.1:c.339G>A (COQ6) | ENSP00000451123.1:p.Trp113Ter | |
| ENST00000554341.6:c.*169G>A (COQ6) | ENSP00000450736.2:n.*169G>A | |
| ENST00000554920.5:c.481+2301G>A (COQ6) | ENSP00000451562.1:n.481+2301G>A | |
| ENST00000555511.5:n.682G>A (COQ6) | ||
| ENST00000556300.6:n.598G>A (COQ6) | ||
| ENST00000557205.6:n.528G>A (COQ6) | ||
| ENST00000557325.5:c.*1301C>T (ENTPD5) | ENSP00000451810.1:n.*1301C>T | |
| ENST00000557584.5:c.*169G>A (COQ6) | ENSP00000450511.1:n.*169G>A | |
| ENST00000629426.2:c.339G>A (COQ6) | ENSP00000486650.1:p.Trp113Ter | |
| NM_182476.2:c.564G>A (COQ6) | NP_872282.1:p.Trp188Ter | |
| NM_182480.2:c.489G>A (COQ6) | NP_872286.2:p.Trp163Ter | |
| XM_005267716.1:c.399G>A (COQ6) | XP_005267773.1:p.Trp133Ter | |
| XM_006720156.1:c.237G>A (COQ6) | XP_006720219.1:p.Trp79Ter | |
| XM_011536807.1:c.564G>A (COQ6) | XP_011535109.1:p.Trp188Ter | |
| XM_011536808.1:c.339G>A (COQ6) | XP_011535110.1:p.Trp113Ter | |
| XM_011536809.1:c.339G>A (COQ6) | XP_011535111.1:p.Trp113Ter | |
| XM_011536810.1:c.564G>A (COQ6) | XP_011535112.1:p.Trp188Ter | |
| XM_011536811.1:c.73-742G>A (COQ6) | XP_011535113.1:n.73-742G>A | |
| XR_943465.1:n.617G>A (COQ6) | ||
| XR_943466.1:n.617G>A (COQ6) | ||
| NM_001330189.1:c.*1301C>T (ENTPD5) | NP_001317118.1:n.*1301C>T | |
| XM_011536807.2:c.564G>A (COQ6) | XP_011535109.1:p.Trp188Ter | |
| XM_011536808.2:c.339G>A (COQ6) | XP_011535110.1:p.Trp113Ter | |
| XM_011536809.3:c.339G>A (COQ6) | XP_011535111.1:p.Trp113Ter | |
| XM_011536810.3:c.564G>A (COQ6) | XP_011535112.1:p.Trp188Ter | |
| XM_017021351.2:c.73-742G>A (COQ6) | XP_016876840.1:n.73-742G>A | |
| XM_017021352.2:c.-736G>A (COQ6) | XP_016876841.1:n.-736G>A | |
| XM_024449619.1:c.-185G>A (COQ6) | XP_024305387.1:n.-185G>A | |
| XR_001750342.1:n.528G>A (COQ6) | ||
| XR_943465.3:n.594G>A (COQ6) | ||
| XR_943466.3:n.594G>A (COQ6) | ||
| NM_001330189.2:c.*1301C>T (ENTPD5) | NP_001317118.1:n.*1301C>T | |
| NM_182476.3:c.564G>A (COQ6) MANE Select | NP_872282.1:p.Trp188Ter | |
| NM_001382258.1:c.1201-2642C>T (ENTPD5) | NP_001369187.1:n.1201-2642C>T | |
| NM_001382259.1:c.*1301C>T (ENTPD5) | NP_001369188.1:n.*1301C>T | |
| NM_001382260.1:c.*1301C>T (ENTPD5) | NP_001369189.1:n.*1301C>T | |
| NM_001382262.1:c.1201-2401C>T (ENTPD5) | NP_001369191.1:n.1201-2401C>T | |
| NM_182480.3:c.489G>A (COQ6) | NP_872286.2:p.Trp163Ter |