Linked Data
ClinVar Variation Id:
298412
dbSNP Id:
rs142892403
ExAC:
10:101473222 G / C
gnomAD v2:
10-101473222-G-C
gnomAD v3:
10-99713465-G-C
gnomAD v4:
10-99713465-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99713465G>C , CM000672.2:g.99713465G>C | GRCh38 |
| NC_000010.10:g.101473222G>C , CM000672.1:g.101473222G>C | GRCh37 |
| NC_000010.9:g.101463212G>C | NCBI36 |
| NG_008986.1:g.24202C>G , LRG_406:g.24202C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*1122C>G (COX15) MANE Select | ENSP00000016171.6:n.*1122C>G | |
| ENST00000649102.1:c.*460+2883C>G | ENSP00000497114.1:n.*460+2883C>G | |
| ENST00000370483.9:c.1116C>G (COX15) | ENSP00000359514.5:p.Phe372Leu | |
| ENST00000493385.5:n.117-9453G>C (CUTC) | ||
| NM_004376.5:c.1116C>G , LRG_406t2:c.1116C>G (COX15) | NP_004367.2:p.Phe372Leu | |
| NM_078470.4:c.*1122C>G , LRG_406t1:c.*1122C>G (COX15) | NP_510870.1:n.*1122C>G | |
| XM_005269539.3:c.1101+2883C>G (COX15) | XP_005269596.1:n.1101+2883C>G | |
| XM_006717633.2:c.*1303C>G (COX15) | XP_006717696.1:n.*1303C>G | |
| XM_006717634.2:c.*49+2883C>G (COX15) | XP_006717697.1:n.*49+2883C>G | |
| XM_011539298.1:c.*64C>G (COX15) | XP_011537600.1:n.*64C>G | |
| NM_001320974.1:c.1101+2883C>G (COX15) | NP_001307903.1:n.1101+2883C>G | |
| NM_001320975.1:c.*1303C>G (COX15) | NP_001307904.1:n.*1303C>G | |
| NM_001320976.1:c.*1122C>G (COX15) | NP_001307905.1:n.*1122C>G | |
| NM_004376.6:c.1116C>G (COX15) | NP_004367.2:p.Phe372Leu | |
| NM_078470.5:c.*1122C>G (COX15) | NP_510870.1:n.*1122C>G | |
| XM_006717634.3:c.*49+2883C>G (COX15) | XP_006717697.1:n.*49+2883C>G | |
| XM_011539298.2:c.*64C>G (COX15) | XP_011537600.1:n.*64C>G | |
| NM_001320974.2:c.1101+2883C>G (COX15) | NP_001307903.1:n.1101+2883C>G | |
| NM_001320975.2:c.*1303C>G (COX15) | NP_001307904.1:n.*1303C>G | |
| NM_001320976.2:c.*1122C>G (COX15) | NP_001307905.1:n.*1122C>G | |
| NM_001372024.1:c.*341C>G (COX15) | NP_001358953.1:n.*341C>G | |
| NM_001372025.1:c.*1122C>G (COX15) | NP_001358954.1:n.*1122C>G | |
| NM_001372026.1:c.*1122C>G (COX15) | NP_001358955.1:n.*1122C>G | |
| NM_001372027.1:c.*1226C>G (COX15) | NP_001358956.1:n.*1226C>G | |
| NM_001372028.1:c.*549C>G (COX15) | NP_001358957.1:n.*549C>G | |
| NM_004376.7:c.1116C>G (COX15) | NP_004367.2:p.Phe372Leu | |
| NM_078470.6:c.*1122C>G (COX15) MANE Select | NP_510870.1:n.*1122C>G | |
| NR_164009.1:n.2195C>G (COX15) |