Linked Data
ClinVar Variation Id:
298405
ClinVar RCV Id:
RCV000366663
dbSNP Id:
rs74981084
gnomAD v2:
10-101472651-C-T
gnomAD v3:
10-99712894-C-T
gnomAD v4:
10-99712894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99712894C>T , CM000672.2:g.99712894C>T | GRCh38 |
| NC_000010.10:g.101472651C>T , CM000672.1:g.101472651C>T | GRCh37 |
| NC_000010.9:g.101462641C>T | NCBI36 |
| NG_008986.1:g.24773G>A , LRG_406:g.24773G>A | |
| NG_053079.1:g.58518C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*1693G>A (COX15) MANE Select | ENSP00000016171.6:n.*1693G>A | |
| ENST00000649102.1:c.*460+3454G>A | ENSP00000497114.1:n.*460+3454G>A | |
| ENST00000370483.9:c.*520G>A (COX15) | ENSP00000359514.5:n.*520G>A | |
| ENST00000493385.5:n.117-10024C>T (CUTC) | ||
| NM_004376.5:c.*520G>A , LRG_406t2:c.*520G>A (COX15) | NP_004367.2:n.*520G>A | |
| NM_078470.4:c.*1693G>A , LRG_406t1:c.*1693G>A (COX15) | NP_510870.1:n.*1693G>A | |
| XM_005269539.3:c.1101+3454G>A (COX15) | XP_005269596.1:n.1101+3454G>A | |
| XM_006717633.2:c.*1874G>A (COX15) | XP_006717696.1:n.*1874G>A | |
| XM_006717634.2:c.*49+3454G>A (COX15) | XP_006717697.1:n.*49+3454G>A | |
| NM_001320974.1:c.1101+3454G>A (COX15) | NP_001307903.1:n.1101+3454G>A | |
| NM_001320975.1:c.*1874G>A (COX15) | NP_001307904.1:n.*1874G>A | |
| NM_001320976.1:c.*1693G>A (COX15) | NP_001307905.1:n.*1693G>A | |
| NM_004376.6:c.*520G>A (COX15) | NP_004367.2:n.*520G>A | |
| NM_078470.5:c.*1693G>A (COX15) | NP_510870.1:n.*1693G>A | |
| XM_006717634.3:c.*49+3454G>A (COX15) | XP_006717697.1:n.*49+3454G>A | |
| XM_011539298.2:c.*635G>A (COX15) | XP_011537600.1:n.*635G>A | |
| NM_001320974.2:c.1101+3454G>A (COX15) | NP_001307903.1:n.1101+3454G>A | |
| NM_001320975.2:c.*1874G>A (COX15) | NP_001307904.1:n.*1874G>A | |
| NM_001320976.2:c.*1693G>A (COX15) | NP_001307905.1:n.*1693G>A | |
| NM_001372024.1:c.*912G>A (COX15) | NP_001358953.1:n.*912G>A | |
| NM_001372025.1:c.*1693G>A (COX15) | NP_001358954.1:n.*1693G>A | |
| NM_001372026.1:c.*1693G>A (COX15) | NP_001358955.1:n.*1693G>A | |
| NM_001372027.1:c.*1797G>A (COX15) | NP_001358956.1:n.*1797G>A | |
| NM_001372028.1:c.*1120G>A (COX15) | NP_001358957.1:n.*1120G>A | |
| NM_004376.7:c.*520G>A (COX15) | NP_004367.2:n.*520G>A | |
| NM_078470.6:c.*1693G>A (COX15) MANE Select | NP_510870.1:n.*1693G>A | |
| NR_164009.1:n.2766G>A (COX15) |