Linked Data
ClinVar Variation Id:
157517
ClinVar RCV Id:
RCV000144862
dbSNP Id:
rs606231262
gnomAD v2:
14-74425683-G-C
gnomAD v3:
14-73958980-G-C
gnomAD v4:
14-73958980-G-C
PubMed:
PMID:24763291
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73958980G>C , CM000676.2:g.73958980G>C | GRCh38 |
| NC_000014.8:g.74425683G>C , CM000676.1:g.74425683G>C | GRCh37 |
| NC_000014.7:g.73495436G>C | NCBI36 |
| NG_032805.1:g.14047G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334571.7:c.622G>C (COQ6) MANE Select | ENSP00000333946.2:p.Asp208His | |
| ENST00000238709.8:c.619G>C (COQ6) | ENSP00000238709.5:p.Asp207His | |
| ENST00000334571.6:c.622G>C (COQ6) | ENSP00000333946.2:p.Asp208His | |
| ENST00000394026.8:c.547G>C (COQ6) | ENSP00000377594.4:p.Asp183His | |
| ENST00000553448.1:n.74G>C (COQ6) | ||
| ENST00000553462.6:n.1163G>C (COQ6) | ||
| ENST00000554320.1:c.397G>C (COQ6) | ENSP00000451123.1:p.Asp133His | |
| ENST00000554341.6:c.*227G>C (COQ6) | ENSP00000450736.2:n.*227G>C | |
| ENST00000554920.5:c.481+3052G>C (COQ6) | ENSP00000451562.1:n.481+3052G>C | |
| ENST00000555511.5:n.740G>C (COQ6) | ||
| ENST00000556588.5:n.489G>C (COQ6) | ||
| ENST00000557325.5:c.*550C>G (ENTPD5) | ENSP00000451810.1:n.*550C>G | |
| ENST00000557584.5:c.*227G>C (COQ6) | ENSP00000450511.1:n.*227G>C | |
| ENST00000629426.2:c.397G>C (COQ6) | ENSP00000486650.1:p.Asp133His | |
| NM_182476.2:c.622G>C (COQ6) | NP_872282.1:p.Asp208His | |
| NM_182480.2:c.547G>C (COQ6) | NP_872286.2:p.Asp183His | |
| XM_005267716.1:c.457G>C (COQ6) | XP_005267773.1:p.Asp153His | |
| XM_006720156.1:c.295G>C (COQ6) | XP_006720219.1:p.Asp99His | |
| XM_011536807.1:c.622G>C (COQ6) | XP_011535109.1:p.Asp208His | |
| XM_011536808.1:c.397G>C (COQ6) | XP_011535110.1:p.Asp133His | |
| XM_011536809.1:c.397G>C (COQ6) | XP_011535111.1:p.Asp133His | |
| XM_011536810.1:c.622G>C (COQ6) | XP_011535112.1:p.Asp208His | |
| XM_011536811.1:c.82G>C (COQ6) | XP_011535113.1:p.Asp28His | |
| XR_943465.1:n.675G>C (COQ6) | ||
| XR_943466.1:n.675G>C (COQ6) | ||
| NM_001330189.1:c.*550C>G (ENTPD5) | NP_001317118.1:n.*550C>G | |
| XM_011536807.2:c.622G>C (COQ6) | XP_011535109.1:p.Asp208His | |
| XM_011536808.2:c.397G>C (COQ6) | XP_011535110.1:p.Asp133His | |
| XM_011536809.3:c.397G>C (COQ6) | XP_011535111.1:p.Asp133His | |
| XM_011536810.3:c.622G>C (COQ6) | XP_011535112.1:p.Asp208His | |
| XM_017021351.2:c.82G>C (COQ6) | XP_016876840.1:p.Asp28His | |
| XM_017021352.2:c.16G>C (COQ6) | XP_016876841.1:p.Asp6His | |
| XM_024449619.1:c.16G>C (COQ6) | XP_024305387.1:p.Asp6His | |
| XR_001750342.1:n.586G>C (COQ6) | ||
| XR_943465.3:n.652G>C (COQ6) | ||
| XR_943466.3:n.652G>C (COQ6) | ||
| NM_001330189.2:c.*550C>G (ENTPD5) | NP_001317118.1:n.*550C>G | |
| NM_182476.3:c.622G>C (COQ6) MANE Select | NP_872282.1:p.Asp208His | |
| NM_001382258.1:c.1201-3393C>G (ENTPD5) | NP_001369187.1:n.1201-3393C>G | |
| NM_001382259.1:c.*550C>G (ENTPD5) | NP_001369188.1:n.*550C>G | |
| NM_001382260.1:c.*550C>G (ENTPD5) | NP_001369189.1:n.*550C>G | |
| NM_001382262.1:c.1201-3152C>G (ENTPD5) | NP_001369191.1:n.1201-3152C>G | |
| NM_182480.3:c.547G>C (COQ6) | NP_872286.2:p.Asp183His |