Linked Data
ClinVar Variation Id:
320002
ClinVar RCV Id:
RCV000277551
dbSNP Id:
rs547268811
ExAC:
16:57481393 C / G
gnomAD v2:
16-57481393-C-G
gnomAD v3:
16-57447481-C-G
gnomAD v4:
16-57447481-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57447481C>G , CM000678.2:g.57447481C>G | GRCh38 |
| NC_000016.9:g.57481393C>G , CM000678.1:g.57481393C>G | GRCh37 |
| NC_000016.8:g.56038894C>G | NCBI36 |
| NG_027696.1:g.5057C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.-25C>G (COQ9) MANE Select | ENSP00000262507.5:n.-25C>G | |
| ENST00000262507.10:c.-25C>G (COQ9) | ENSP00000262507.5:n.-25C>G | |
| ENST00000394391.8:c.-195G>C (CIAPIN1) | ENSP00000377914.4:n.-195G>C | |
| ENST00000565964.5:c.-25C>G (COQ9) | ENSP00000458023.1:n.-25C>G | |
| ENST00000566388.5:n.57C>G (COQ9) | ||
| NM_001308347.1:c.-195G>C (CIAPIN1) | NP_001295276.1:n.-195G>C | |
| NM_001308358.1:c.-195G>C (CIAPIN1) | NP_001295287.1:n.-195G>C | |
| NM_020312.3:c.-25C>G (COQ9) | NP_064708.1:n.-25C>G | |
| NM_020313.3:c.-195G>C (CIAPIN1) | NP_064709.2:n.-195G>C | |
| NM_020312.4:c.-25C>G (COQ9) MANE Select | NP_064708.1:n.-25C>G |