Linked Data
dbSNP Id:
rs912182941
gnomAD v2:
10-101473304-A-T
gnomAD v3:
10-99713547-A-T
gnomAD v4:
10-99713547-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99713547A>T , CM000672.2:g.99713547A>T | GRCh38 |
| NC_000010.10:g.101473304A>T , CM000672.1:g.101473304A>T | GRCh37 |
| NC_000010.9:g.101463294A>T | NCBI36 |
| NG_008986.1:g.24120T>A , LRG_406:g.24120T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*1040T>A (COX15) MANE Select | ENSP00000016171.6:n.*1040T>A | |
| ENST00000649102.1:c.*460+2801T>A | ENSP00000497114.1:n.*460+2801T>A | |
| ENST00000016171.5:c.*1040T>A (COX15) | ENSP00000016171.5:n.*1040T>A | |
| ENST00000370483.9:c.1102-68T>A (COX15) | ENSP00000359514.5:n.1102-68T>A | |
| ENST00000493385.5:n.117-9371A>T (CUTC) | ||
| NM_004376.5:c.1102-68T>A , LRG_406t2:c.1102-68T>A (COX15) | NP_004367.2:n.1102-68T>A | |
| NM_078470.4:c.*1040T>A , LRG_406t1:c.*1040T>A (COX15) | NP_510870.1:n.*1040T>A | |
| XM_005269539.3:c.1101+2801T>A (COX15) | XP_005269596.1:n.1101+2801T>A | |
| XM_006717633.2:c.*1221T>A (COX15) | XP_006717696.1:n.*1221T>A | |
| XM_006717634.2:c.*49+2801T>A (COX15) | XP_006717697.1:n.*49+2801T>A | |
| XM_011539298.1:c.*50-68T>A (COX15) | XP_011537600.1:n.*50-68T>A | |
| NM_001320974.1:c.1101+2801T>A (COX15) | NP_001307903.1:n.1101+2801T>A | |
| NM_001320975.1:c.*1221T>A (COX15) | NP_001307904.1:n.*1221T>A | |
| NM_001320976.1:c.*1040T>A (COX15) | NP_001307905.1:n.*1040T>A | |
| NM_004376.6:c.1102-68T>A (COX15) | NP_004367.2:n.1102-68T>A | |
| NM_078470.5:c.*1040T>A (COX15) | NP_510870.1:n.*1040T>A | |
| XM_006717634.3:c.*49+2801T>A (COX15) | XP_006717697.1:n.*49+2801T>A | |
| XM_011539298.2:c.*50-68T>A (COX15) | XP_011537600.1:n.*50-68T>A | |
| NM_001320974.2:c.1101+2801T>A (COX15) | NP_001307903.1:n.1101+2801T>A | |
| NM_001320975.2:c.*1221T>A (COX15) | NP_001307904.1:n.*1221T>A | |
| NM_001320976.2:c.*1040T>A (COX15) | NP_001307905.1:n.*1040T>A | |
| NM_001372024.1:c.*259T>A (COX15) | NP_001358953.1:n.*259T>A | |
| NM_001372025.1:c.*1040T>A (COX15) | NP_001358954.1:n.*1040T>A | |
| NM_001372026.1:c.*1040T>A (COX15) | NP_001358955.1:n.*1040T>A | |
| NM_001372027.1:c.*1144T>A (COX15) | NP_001358956.1:n.*1144T>A | |
| NM_001372028.1:c.*467T>A (COX15) | NP_001358957.1:n.*467T>A | |
| NM_004376.7:c.1102-68T>A (COX15) | NP_004367.2:n.1102-68T>A | |
| NM_078470.6:c.*1040T>A (COX15) MANE Select | NP_510870.1:n.*1040T>A | |
| NR_164009.1:n.2113T>A (COX15) |