Linked Data
ClinVar Variation Id:
389024
dbSNP Id:
rs368116933
ExAC:
16:21985208 A / G
gnomAD v2:
16-21985208-A-G
gnomAD v3:
16-21973887-A-G
gnomAD v4:
16-21973887-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21973887A>G , CM000678.2:g.21973887A>G | GRCh38 |
| NC_000016.9:g.21985208A>G , CM000678.1:g.21985208A>G | GRCh37 |
| NC_000016.8:g.21892709A>G | NCBI36 |
| NG_042228.1:g.25824A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268379.9:c.967-9A>G (UQCRC2) MANE Select | ENSP00000268379.4:n.967-9A>G | |
| ENST00000268379.8:c.967-9A>G (UQCRC2) | ENSP00000268379.4:n.967-9A>G | |
| ENST00000561553.5:c.967-9A>G (UQCRC2) | ENSP00000456232.1:n.967-9A>G | |
| ENST00000563711.5:n.1147-9A>G (UQCRC2) | ||
| ENST00000563898.5:c.966+1765A>G (UQCRC2) | ENSP00000456738.1:n.966+1765A>G | |
| ENST00000567810.1:n.521-9A>G (UQCRC2) | ||
| NM_003366.2:c.967-9A>G (UQCRC2) | NP_003357.2:n.967-9A>G | |
| NM_003366.3:c.967-9A>G (UQCRC2) | NP_003357.2:n.967-9A>G | |
| XM_011545785.1:c.786+10389T>C (PDZD9) | XP_011544087.1:n.786+10389T>C | |
| XM_011545785.3:c.786+10389T>C (PDZD9) | XP_011544087.1:n.786+10389T>C | |
| XM_017023109.1:c.606+10389T>C (PDZD9) | XP_016878598.1:n.606+10389T>C | |
| XM_017023110.1:c.600+10389T>C (PDZD9) | XP_016878599.1:n.600+10389T>C | |
| NM_003366.4:c.967-9A>G (UQCRC2) MANE Select | NP_003357.2:n.967-9A>G |