Linked Data
ClinVar Variation Id:
298387
ClinVar RCV Id:
RCV000303474
dbSNP Id:
rs10883407
gnomAD v2:
10-101470927-A-G
gnomAD v3:
10-99711170-A-G
gnomAD v4:
10-99711170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99711170A>G , CM000672.2:g.99711170A>G | GRCh38 |
| NC_000010.10:g.101470927A>G , CM000672.1:g.101470927A>G | GRCh37 |
| NC_000010.9:g.101460917A>G | NCBI36 |
| NG_008986.1:g.26497T>C , LRG_406:g.26497T>C | |
| NG_053079.1:g.56794A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000016171.6:c.*3417T>C (COX15) MANE Select | ENSP00000016171.6:n.*3417T>C | |
| ENST00000370489.5:c.*6487A>G (ENTPD7) MANE Select | ENSP00000359520.4:n.*6487A>G | |
| ENST00000649102.1:c.*460+5178T>C | ENSP00000497114.1:n.*460+5178T>C | |
| ENST00000493385.5:n.116+8497A>G (CUTC) | ||
| NM_004376.5:c.*2244T>C , LRG_406t2:c.*2244T>C (COX15) | NP_004367.2:n.*2244T>C | |
| NM_020354.3:c.*6487A>G (ENTPD7) | NP_065087.1:n.*6487A>G | |
| NM_078470.4:c.*3417T>C , LRG_406t1:c.*3417T>C (COX15) | NP_510870.1:n.*3417T>C | |
| XM_005269539.3:c.1101+5178T>C (COX15) | XP_005269596.1:n.1101+5178T>C | |
| XM_006717634.2:c.*49+5178T>C (COX15) | XP_006717697.1:n.*49+5178T>C | |
| NM_001320974.1:c.1101+5178T>C (COX15) | NP_001307903.1:n.1101+5178T>C | |
| NM_001320975.1:c.*3598T>C (COX15) | NP_001307904.1:n.*3598T>C | |
| NM_001320976.1:c.*3417T>C (COX15) | NP_001307905.1:n.*3417T>C | |
| NM_001349962.1:c.*6487A>G (ENTPD7) | NP_001336891.1:n.*6487A>G | |
| NM_001349963.1:c.*6487A>G (ENTPD7) | NP_001336892.1:n.*6487A>G | |
| NM_004376.6:c.*2244T>C (COX15) | NP_004367.2:n.*2244T>C | |
| NM_020354.4:c.*6487A>G (ENTPD7) | NP_065087.1:n.*6487A>G | |
| NM_078470.5:c.*3417T>C (COX15) | NP_510870.1:n.*3417T>C | |
| XM_006717634.3:c.*49+5178T>C (COX15) | XP_006717697.1:n.*49+5178T>C | |
| NM_020354.5:c.*6487A>G (ENTPD7) MANE Select | NP_065087.1:n.*6487A>G | |
| NM_001320974.2:c.1101+5178T>C (COX15) | NP_001307903.1:n.1101+5178T>C | |
| NM_001320975.2:c.*3598T>C (COX15) | NP_001307904.1:n.*3598T>C | |
| NM_001320976.2:c.*3417T>C (COX15) | NP_001307905.1:n.*3417T>C | |
| NM_001349962.2:c.*6487A>G (ENTPD7) | NP_001336891.1:n.*6487A>G | |
| NM_001372024.1:c.*2636T>C (COX15) | NP_001358953.1:n.*2636T>C | |
| NM_001372025.1:c.*3417T>C (COX15) | NP_001358954.1:n.*3417T>C | |
| NM_001372026.1:c.*3417T>C (COX15) | NP_001358955.1:n.*3417T>C | |
| NM_001372027.1:c.*3521T>C (COX15) | NP_001358956.1:n.*3521T>C | |
| NM_001372028.1:c.*2844T>C (COX15) | NP_001358957.1:n.*2844T>C | |
| NM_004376.7:c.*2244T>C (COX15) | NP_004367.2:n.*2244T>C | |
| NM_078470.6:c.*3417T>C (COX15) MANE Select | NP_510870.1:n.*3417T>C | |
| NR_164009.1:n.4490T>C (COX15) | ||
| NM_001349963.2:c.*6487A>G (ENTPD7) | NP_001336892.1:n.*6487A>G |