Linked Data
ClinVar Variation Id:
514605
dbSNP Id:
rs777593291
ExAC:
16:21976781 C / T
gnomAD v2:
16-21976781-C-T
gnomAD v3:
16-21965460-C-T
gnomAD v4:
16-21965460-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21965460C>T , CM000678.2:g.21965460C>T | GRCh38 |
| NC_000016.9:g.21976781C>T , CM000678.1:g.21976781C>T | GRCh37 |
| NC_000016.8:g.21884282C>T | NCBI36 |
| NG_042228.1:g.17397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268379.9:c.567C>T (UQCRC2) MANE Select | ENSP00000268379.4:p.Pro189= | |
| ENST00000268379.8:c.567C>T (UQCRC2) | ENSP00000268379.4:p.Pro189= | |
| ENST00000561553.5:c.567C>T (UQCRC2) | ENSP00000456232.1:p.Pro189= | |
| ENST00000563711.5:n.747C>T (UQCRC2) | ||
| ENST00000563898.5:c.567C>T (UQCRC2) | ENSP00000456738.1:p.Pro189= | |
| ENST00000565331.5:c.483C>T (UQCRC2) | ENSP00000455088.1:p.Pro161= | |
| ENST00000567597.1:n.239C>T (UQCRC2) | ||
| NM_003366.2:c.567C>T (UQCRC2) | NP_003357.2:p.Pro189= | |
| NM_003366.3:c.567C>T (UQCRC2) | NP_003357.2:p.Pro189= | |
| XM_011545785.1:c.787-7843G>A (PDZD9) | XP_011544087.1:n.787-7843G>A | |
| XM_011545785.3:c.787-7843G>A (PDZD9) | XP_011544087.1:n.787-7843G>A | |
| XM_017023109.1:c.607-7843G>A (PDZD9) | XP_016878598.1:n.607-7843G>A | |
| XM_017023110.1:c.601-7843G>A (PDZD9) | XP_016878599.1:n.601-7843G>A | |
| NM_003366.4:c.567C>T (UQCRC2) MANE Select | NP_003357.2:p.Pro189= |