Linked Data
ClinVar Variation Id:
137011
dbSNP Id:
rs2231678
ExAC:
10:101491829 C / A
gnomAD v2:
10-101491829-C-A
gnomAD v3:
10-99732072-C-A
gnomAD v4:
10-99732072-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99732072C>A , CM000672.2:g.99732072C>A | GRCh38 |
| NC_000010.10:g.101491829C>A , CM000672.1:g.101491829C>A | GRCh37 |
| NC_000010.9:g.101481819C>A | NCBI36 |
| NG_008986.1:g.5595G>T , LRG_406:g.5595G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.-23G>T (COX15) MANE Select | ENSP00000016171.6:n.-23G>T | |
| ENST00000649102.1:c.-23G>T | ENSP00000497114.1:n.-23G>T | |
| ENST00000016171.5:c.-23G>T (COX15) | ENSP00000016171.5:n.-23G>T | |
| ENST00000370483.9:c.-23G>T (COX15) | ENSP00000359514.5:n.-23G>T | |
| ENST00000493385.5:n.310-4174C>A (CUTC) | ||
| NM_004376.5:c.-23G>T , LRG_406t2:c.-23G>T (COX15) | NP_004367.2:n.-23G>T | |
| NM_078470.4:c.-23G>T , LRG_406t1:c.-23G>T (COX15) | NP_510870.1:n.-23G>T | |
| XM_005269539.3:c.-23G>T (COX15) | XP_005269596.1:n.-23G>T | |
| XM_006717633.2:c.-23G>T (COX15) | XP_006717696.1:n.-23G>T | |
| XM_006717634.2:c.-23G>T (COX15) | XP_006717697.1:n.-23G>T | |
| XM_011539298.1:c.-23G>T (COX15) | XP_011537600.1:n.-23G>T | |
| NM_001320974.1:c.-23G>T (COX15) | NP_001307903.1:n.-23G>T | |
| NM_001320975.1:c.-23G>T (COX15) | NP_001307904.1:n.-23G>T | |
| NM_001320976.1:c.-477G>T (COX15) | NP_001307905.1:n.-477G>T | |
| NM_004376.6:c.-23G>T (COX15) | NP_004367.2:n.-23G>T | |
| NM_078470.5:c.-23G>T (COX15) | NP_510870.1:n.-23G>T | |
| XM_006717634.3:c.-23G>T (COX15) | XP_006717697.1:n.-23G>T | |
| XM_011539298.2:c.-23G>T (COX15) | XP_011537600.1:n.-23G>T | |
| NM_001320974.2:c.-23G>T (COX15) | NP_001307903.1:n.-23G>T | |
| NM_001320975.2:c.-23G>T (COX15) | NP_001307904.1:n.-23G>T | |
| NM_001320976.2:c.-477G>T (COX15) | NP_001307905.1:n.-477G>T | |
| NM_001372024.1:c.-23G>T (COX15) | NP_001358953.1:n.-23G>T | |
| NM_001372025.1:c.-23G>T (COX15) | NP_001358954.1:n.-23G>T | |
| NM_001372026.1:c.-23G>T (COX15) | NP_001358955.1:n.-23G>T | |
| NM_001372027.1:c.-23G>T (COX15) | NP_001358956.1:n.-23G>T | |
| NM_001372028.1:c.-23G>T (COX15) | NP_001358957.1:n.-23G>T | |
| NM_004376.7:c.-23G>T (COX15) | NP_004367.2:n.-23G>T | |
| NM_078470.6:c.-23G>T (COX15) MANE Select | NP_510870.1:n.-23G>T | |
| NR_164009.1:n.56G>T (COX15) |