Linked Data
ClinVar Variation Id:
298397
ClinVar RCV Id:
RCV000375739
dbSNP Id:
rs762075313
gnomAD v2:
10-101472062-C-T
gnomAD v3:
10-99712305-C-T
gnomAD v4:
10-99712305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99712305C>T , CM000672.2:g.99712305C>T | GRCh38 |
| NC_000010.10:g.101472062C>T , CM000672.1:g.101472062C>T | GRCh37 |
| NC_000010.9:g.101462052C>T | NCBI36 |
| NG_008986.1:g.25362G>A , LRG_406:g.25362G>A | |
| NG_053079.1:g.57929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*2282G>A (COX15) MANE Select | ENSP00000016171.6:n.*2282G>A | |
| ENST00000649102.1:c.*460+4043G>A | ENSP00000497114.1:n.*460+4043G>A | |
| ENST00000370483.9:c.*1109G>A (COX15) | ENSP00000359514.5:n.*1109G>A | |
| ENST00000493385.5:n.116+9632C>T (CUTC) | ||
| NM_004376.5:c.*1109G>A , LRG_406t2:c.*1109G>A (COX15) | NP_004367.2:n.*1109G>A | |
| NM_078470.4:c.*2282G>A , LRG_406t1:c.*2282G>A (COX15) | NP_510870.1:n.*2282G>A | |
| XM_005269539.3:c.1101+4043G>A (COX15) | XP_005269596.1:n.1101+4043G>A | |
| XM_006717633.2:c.*2463G>A (COX15) | XP_006717696.1:n.*2463G>A | |
| XM_006717634.2:c.*49+4043G>A (COX15) | XP_006717697.1:n.*49+4043G>A | |
| NM_001320974.1:c.1101+4043G>A (COX15) | NP_001307903.1:n.1101+4043G>A | |
| NM_001320975.1:c.*2463G>A (COX15) | NP_001307904.1:n.*2463G>A | |
| NM_001320976.1:c.*2282G>A (COX15) | NP_001307905.1:n.*2282G>A | |
| NM_004376.6:c.*1109G>A (COX15) | NP_004367.2:n.*1109G>A | |
| NM_078470.5:c.*2282G>A (COX15) | NP_510870.1:n.*2282G>A | |
| XM_006717634.3:c.*49+4043G>A (COX15) | XP_006717697.1:n.*49+4043G>A | |
| XM_011539298.2:c.*1224G>A (COX15) | XP_011537600.1:n.*1224G>A | |
| NM_001320974.2:c.1101+4043G>A (COX15) | NP_001307903.1:n.1101+4043G>A | |
| NM_001320975.2:c.*2463G>A (COX15) | NP_001307904.1:n.*2463G>A | |
| NM_001320976.2:c.*2282G>A (COX15) | NP_001307905.1:n.*2282G>A | |
| NM_001372024.1:c.*1501G>A (COX15) | NP_001358953.1:n.*1501G>A | |
| NM_001372025.1:c.*2282G>A (COX15) | NP_001358954.1:n.*2282G>A | |
| NM_001372026.1:c.*2282G>A (COX15) | NP_001358955.1:n.*2282G>A | |
| NM_001372027.1:c.*2386G>A (COX15) | NP_001358956.1:n.*2386G>A | |
| NM_001372028.1:c.*1709G>A (COX15) | NP_001358957.1:n.*1709G>A | |
| NM_004376.7:c.*1109G>A (COX15) | NP_004367.2:n.*1109G>A | |
| NM_078470.6:c.*2282G>A (COX15) MANE Select | NP_510870.1:n.*2282G>A | |
| NR_164009.1:n.3355G>A (COX15) |