Linked Data
ClinVar Variation Id:
298413
dbSNP Id:
rs757725009
ExAC:
10:101476177 G / T
gnomAD v2:
10-101476177-G-T
gnomAD v3:
10-99716420-G-T
gnomAD v4:
10-99716420-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99716420G>T , CM000672.2:g.99716420G>T | GRCh38 |
| NC_000010.10:g.101476177G>T , CM000672.1:g.101476177G>T | GRCh37 |
| NC_000010.9:g.101466167G>T | NCBI36 |
| NG_008986.1:g.21247C>A , LRG_406:g.21247C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.1029C>A (COX15) MANE Select | ENSP00000016171.6:p.Leu343= | |
| ENST00000649102.1:c.*388C>A | ENSP00000497114.1:n.*388C>A | |
| ENST00000016171.5:c.1029C>A (COX15) | ENSP00000016171.5:p.Leu343= | |
| ENST00000370483.9:c.1029C>A (COX15) | ENSP00000359514.5:p.Leu343= | |
| ENST00000493385.5:n.117-6498G>T (CUTC) | ||
| ENST00000497381.1:n.227C>A (COX15) | ||
| NM_004376.5:c.1029C>A , LRG_406t2:c.1029C>A (COX15) | NP_004367.2:p.Leu343= | |
| NM_078470.4:c.1029C>A , LRG_406t1:c.1029C>A (COX15) | NP_510870.1:p.Leu343= | |
| XM_005269539.3:c.1029C>A (COX15) | XP_005269596.1:p.Leu343= | |
| XM_006717633.2:c.874C>A (COX15) | XP_006717696.1:p.Leu292Ile | |
| XM_006717634.2:c.874C>A (COX15) | XP_006717697.1:p.Leu292Ile | |
| XM_011539298.1:c.874C>A (COX15) | XP_011537600.1:p.Leu292Ile | |
| NM_001320974.1:c.1029C>A (COX15) | NP_001307903.1:p.Leu343= | |
| NM_001320975.1:c.874C>A (COX15) | NP_001307904.1:p.Leu292Ile | |
| NM_001320976.1:c.492C>A (COX15) | NP_001307905.1:p.Leu164= | |
| NM_004376.6:c.1029C>A (COX15) | NP_004367.2:p.Leu343= | |
| NM_078470.5:c.1029C>A (COX15) | NP_510870.1:p.Leu343= | |
| XM_006717634.3:c.874C>A (COX15) | XP_006717697.1:p.Leu292Ile | |
| XM_011539298.2:c.874C>A (COX15) | XP_011537600.1:p.Leu292Ile | |
| NM_001320974.2:c.1029C>A (COX15) | NP_001307903.1:p.Leu343= | |
| NM_001320975.2:c.874C>A (COX15) | NP_001307904.1:p.Leu292Ile | |
| NM_001320976.2:c.492C>A (COX15) | NP_001307905.1:p.Leu164= | |
| NM_001372024.1:c.1029C>A (COX15) | NP_001358953.1:p.Leu343= | |
| NM_001372025.1:c.1047C>A (COX15) | NP_001358954.1:p.Leu349= | |
| NM_001372026.1:c.1002C>A (COX15) | NP_001358955.1:p.Leu334= | |
| NM_001372027.1:c.1029C>A (COX15) | NP_001358956.1:p.Leu343= | |
| NM_001372028.1:c.874C>A (COX15) | NP_001358957.1:p.Leu292Ile | |
| NM_004376.7:c.1029C>A (COX15) | NP_004367.2:p.Leu343= | |
| NM_078470.6:c.1029C>A (COX15) MANE Select | NP_510870.1:p.Leu343= | |
| NR_164009.1:n.869C>A (COX15) |