Linked Data
ClinVar Variation Id:
298393
ClinVar RCV Id:
RCV000333899
dbSNP Id:
rs886046603
gnomAD v3:
10-99711919-G-C
gnomAD v4:
10-99711919-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99711919G>C , CM000672.2:g.99711919G>C | GRCh38 |
| NC_000010.10:g.101471676G>C , CM000672.1:g.101471676G>C | GRCh37 |
| NC_000010.9:g.101461666G>C | NCBI36 |
| NG_008986.1:g.25748C>G , LRG_406:g.25748C>G | |
| NG_053079.1:g.57543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*2668C>G (COX15) MANE Select | ENSP00000016171.6:n.*2668C>G | |
| ENST00000649102.1:c.*460+4429C>G | ENSP00000497114.1:n.*460+4429C>G | |
| ENST00000370483.9:c.*1495C>G (COX15) | ENSP00000359514.5:n.*1495C>G | |
| ENST00000493385.5:n.116+9246G>C (CUTC) | ||
| NM_004376.5:c.*1495C>G , LRG_406t2:c.*1495C>G (COX15) | NP_004367.2:n.*1495C>G | |
| NM_078470.4:c.*2668C>G , LRG_406t1:c.*2668C>G (COX15) | NP_510870.1:n.*2668C>G | |
| XM_005269539.3:c.1101+4429C>G (COX15) | XP_005269596.1:n.1101+4429C>G | |
| XM_006717633.2:c.*2849C>G (COX15) | XP_006717696.1:n.*2849C>G | |
| XM_006717634.2:c.*49+4429C>G (COX15) | XP_006717697.1:n.*49+4429C>G | |
| NM_001320974.1:c.1101+4429C>G (COX15) | NP_001307903.1:n.1101+4429C>G | |
| NM_001320975.1:c.*2849C>G (COX15) | NP_001307904.1:n.*2849C>G | |
| NM_001320976.1:c.*2668C>G (COX15) | NP_001307905.1:n.*2668C>G | |
| NM_004376.6:c.*1495C>G (COX15) | NP_004367.2:n.*1495C>G | |
| NM_078470.5:c.*2668C>G (COX15) | NP_510870.1:n.*2668C>G | |
| XM_006717634.3:c.*49+4429C>G (COX15) | XP_006717697.1:n.*49+4429C>G | |
| XM_011539298.2:c.*1610C>G (COX15) | XP_011537600.1:n.*1610C>G | |
| NM_001320974.2:c.1101+4429C>G (COX15) | NP_001307903.1:n.1101+4429C>G | |
| NM_001320975.2:c.*2849C>G (COX15) | NP_001307904.1:n.*2849C>G | |
| NM_001320976.2:c.*2668C>G (COX15) | NP_001307905.1:n.*2668C>G | |
| NM_001372024.1:c.*1887C>G (COX15) | NP_001358953.1:n.*1887C>G | |
| NM_001372025.1:c.*2668C>G (COX15) | NP_001358954.1:n.*2668C>G | |
| NM_001372026.1:c.*2668C>G (COX15) | NP_001358955.1:n.*2668C>G | |
| NM_001372027.1:c.*2772C>G (COX15) | NP_001358956.1:n.*2772C>G | |
| NM_001372028.1:c.*2095C>G (COX15) | NP_001358957.1:n.*2095C>G | |
| NM_004376.7:c.*1495C>G (COX15) | NP_004367.2:n.*1495C>G | |
| NM_078470.6:c.*2668C>G (COX15) MANE Select | NP_510870.1:n.*2668C>G | |
| NR_164009.1:n.3741C>G (COX15) |