Linked Data
ClinVar Variation Id:
298377
ClinVar RCV Id:
RCV000389345
dbSNP Id:
rs1056844
gnomAD v2:
10-101469903-T-G
gnomAD v3:
10-99710146-T-G
gnomAD v4:
10-99710146-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99710146T>G , CM000672.2:g.99710146T>G | GRCh38 |
| NC_000010.10:g.101469903T>G , CM000672.1:g.101469903T>G | GRCh37 |
| NC_000010.9:g.101459893T>G | NCBI36 |
| NG_008986.1:g.27521A>C , LRG_406:g.27521A>C | |
| NG_053079.1:g.55770T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370489.5:c.*5463T>G (ENTPD7) MANE Select | ENSP00000359520.4:n.*5463T>G | |
| ENST00000649102.1:c.*460+6202A>C | ENSP00000497114.1:n.*460+6202A>C | |
| ENST00000493385.5:n.116+7473T>G (CUTC) | ||
| NM_004376.5:c.*3268A>C , LRG_406t2:c.*3268A>C (COX15) | NP_004367.2:n.*3268A>C | |
| NM_020354.3:c.*5463T>G (ENTPD7) | NP_065087.1:n.*5463T>G | |
| NM_078470.4:c.*4441A>C , LRG_406t1:c.*4441A>C (COX15) | NP_510870.1:n.*4441A>C | |
| XM_005269539.3:c.1101+6202A>C (COX15) | XP_005269596.1:n.1101+6202A>C | |
| XM_006717634.2:c.*49+6202A>C (COX15) | XP_006717697.1:n.*49+6202A>C | |
| NM_001320974.1:c.1101+6202A>C (COX15) | NP_001307903.1:n.1101+6202A>C | |
| NM_001349962.1:c.*5463T>G (ENTPD7) | NP_001336891.1:n.*5463T>G | |
| NM_001349963.1:c.*5463T>G (ENTPD7) | NP_001336892.1:n.*5463T>G | |
| NM_020354.4:c.*5463T>G (ENTPD7) | NP_065087.1:n.*5463T>G | |
| XM_006717634.3:c.*49+6202A>C (COX15) | XP_006717697.1:n.*49+6202A>C | |
| NM_020354.5:c.*5463T>G (ENTPD7) MANE Select | NP_065087.1:n.*5463T>G | |
| NM_001320974.2:c.1101+6202A>C (COX15) | NP_001307903.1:n.1101+6202A>C | |
| NM_001349962.2:c.*5463T>G (ENTPD7) | NP_001336891.1:n.*5463T>G | |
| NM_001349963.2:c.*5463T>G (ENTPD7) | NP_001336892.1:n.*5463T>G |