Linked Data
ClinVar Variation Id:
1289465
ClinVar RCV Id:
RCV001714013
dbSNP Id:
rs11648723
gnomAD v2:
16-21985486-G-T
gnomAD v3:
16-21974165-G-T
gnomAD v4:
16-21974165-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21974165G>T , CM000678.2:g.21974165G>T | GRCh38 |
| NC_000016.9:g.21985486G>T , CM000678.1:g.21985486G>T | GRCh37 |
| NC_000016.8:g.21892987G>T | NCBI36 |
| NG_042228.1:g.26102G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268379.9:c.1047+189G>T (UQCRC2) MANE Select | ENSP00000268379.4:n.1047+189G>T | |
| ENST00000268379.8:c.1047+189G>T (UQCRC2) | ENSP00000268379.4:n.1047+189G>T | |
| ENST00000561553.5:c.1047+189G>T (UQCRC2) | ENSP00000456232.1:n.1047+189G>T | |
| ENST00000563711.5:n.1227+189G>T (UQCRC2) | ||
| ENST00000563898.5:c.966+2043G>T (UQCRC2) | ENSP00000456738.1:n.966+2043G>T | |
| NM_003366.2:c.1047+189G>T (UQCRC2) | NP_003357.2:n.1047+189G>T | |
| NM_003366.3:c.1047+189G>T (UQCRC2) | NP_003357.2:n.1047+189G>T | |
| XM_011545785.1:c.786+10111C>A (PDZD9) | XP_011544087.1:n.786+10111C>A | |
| XM_011545785.3:c.786+10111C>A (PDZD9) | XP_011544087.1:n.786+10111C>A | |
| XM_017023109.1:c.606+10111C>A (PDZD9) | XP_016878598.1:n.606+10111C>A | |
| XM_017023110.1:c.600+10111C>A (PDZD9) | XP_016878599.1:n.600+10111C>A | |
| NM_003366.4:c.1047+189G>T (UQCRC2) MANE Select | NP_003357.2:n.1047+189G>T |