Linked Data
ClinVar Variation Id:
430295
dbSNP Id:
rs778618710
ExAC:
16:21973809 T / C
gnomAD v2:
16-21973809-T-C
gnomAD v3:
16-21962488-T-C
gnomAD v4:
16-21962488-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21962488T>C , CM000678.2:g.21962488T>C | GRCh38 |
| NC_000016.9:g.21973809T>C , CM000678.1:g.21973809T>C | GRCh37 |
| NC_000016.8:g.21881310T>C | NCBI36 |
| NG_042228.1:g.14425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268379.9:c.361T>C (UQCRC2) MANE Select | ENSP00000268379.4:p.Tyr121His | |
| ENST00000268379.8:c.361T>C (UQCRC2) | ENSP00000268379.4:p.Tyr121His | |
| ENST00000561553.5:c.361T>C (UQCRC2) | ENSP00000456232.1:p.Tyr121His | |
| ENST00000563711.5:n.297T>C (UQCRC2) | ||
| ENST00000563898.5:c.361T>C (UQCRC2) | ENSP00000456738.1:p.Tyr121His | |
| ENST00000564095.5:c.*148T>C (UQCRC2) | ENSP00000457600.1:n.*148T>C | |
| ENST00000565331.5:c.277T>C (UQCRC2) | ENSP00000455088.1:p.Tyr93His | |
| ENST00000565464.5:c.*317T>C (UQCRC2) | ENSP00000457662.1:n.*317T>C | |
| ENST00000567597.1:n.33T>C (UQCRC2) | ||
| ENST00000567757.1:n.87-273T>C (UQCRC2) | ||
| NM_003366.2:c.361T>C (UQCRC2) | NP_003357.2:p.Tyr121His | |
| NM_003366.3:c.361T>C (UQCRC2) | NP_003357.2:p.Tyr121His | |
| XM_011545785.1:c.787-4871A>G (PDZD9) | XP_011544087.1:n.787-4871A>G | |
| XM_011545785.3:c.787-4871A>G (PDZD9) | XP_011544087.1:n.787-4871A>G | |
| XM_017023109.1:c.607-4871A>G (PDZD9) | XP_016878598.1:n.607-4871A>G | |
| XM_017023110.1:c.601-4871A>G (PDZD9) | XP_016878599.1:n.601-4871A>G | |
| NM_003366.4:c.361T>C (UQCRC2) MANE Select | NP_003357.2:p.Tyr121His |