Linked Data
ClinVar Variation Id:
298389
ClinVar RCV Id:
RCV000273011
dbSNP Id:
rs886046601
gnomAD v2:
10-101471446-T-C
gnomAD v3:
10-99711689-T-C
gnomAD v4:
10-99711689-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99711689T>C , CM000672.2:g.99711689T>C | GRCh38 |
| NC_000010.10:g.101471446T>C , CM000672.1:g.101471446T>C | GRCh37 |
| NC_000010.9:g.101461436T>C | NCBI36 |
| NG_008986.1:g.25978A>G , LRG_406:g.25978A>G | |
| NG_053079.1:g.57313T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*2898A>G (COX15) MANE Select | ENSP00000016171.6:n.*2898A>G | |
| ENST00000649102.1:c.*460+4659A>G | ENSP00000497114.1:n.*460+4659A>G | |
| ENST00000493385.5:n.116+9016T>C (CUTC) | ||
| NM_004376.5:c.*1725A>G , LRG_406t2:c.*1725A>G (COX15) | NP_004367.2:n.*1725A>G | |
| NM_078470.4:c.*2898A>G , LRG_406t1:c.*2898A>G (COX15) | NP_510870.1:n.*2898A>G | |
| XM_005269539.3:c.1101+4659A>G (COX15) | XP_005269596.1:n.1101+4659A>G | |
| XM_006717634.2:c.*49+4659A>G (COX15) | XP_006717697.1:n.*49+4659A>G | |
| NM_001320974.1:c.1101+4659A>G (COX15) | NP_001307903.1:n.1101+4659A>G | |
| NM_001320975.1:c.*3079A>G (COX15) | NP_001307904.1:n.*3079A>G | |
| NM_001320976.1:c.*2898A>G (COX15) | NP_001307905.1:n.*2898A>G | |
| NM_004376.6:c.*1725A>G (COX15) | NP_004367.2:n.*1725A>G | |
| NM_078470.5:c.*2898A>G (COX15) | NP_510870.1:n.*2898A>G | |
| XM_006717634.3:c.*49+4659A>G (COX15) | XP_006717697.1:n.*49+4659A>G | |
| NM_001320974.2:c.1101+4659A>G (COX15) | NP_001307903.1:n.1101+4659A>G | |
| NM_001320975.2:c.*3079A>G (COX15) | NP_001307904.1:n.*3079A>G | |
| NM_001320976.2:c.*2898A>G (COX15) | NP_001307905.1:n.*2898A>G | |
| NM_001372024.1:c.*2117A>G (COX15) | NP_001358953.1:n.*2117A>G | |
| NM_001372025.1:c.*2898A>G (COX15) | NP_001358954.1:n.*2898A>G | |
| NM_001372026.1:c.*2898A>G (COX15) | NP_001358955.1:n.*2898A>G | |
| NM_001372027.1:c.*3002A>G (COX15) | NP_001358956.1:n.*3002A>G | |
| NM_001372028.1:c.*2325A>G (COX15) | NP_001358957.1:n.*2325A>G | |
| NM_004376.7:c.*1725A>G (COX15) | NP_004367.2:n.*1725A>G | |
| NM_078470.6:c.*2898A>G (COX15) MANE Select | NP_510870.1:n.*2898A>G | |
| NR_164009.1:n.3971A>G (COX15) |