Linked Data
dbSNP Id:
rs779117084
gnomAD v2:
20-39744968-C-G
gnomAD v3:
20-41116328-C-G
gnomAD v4:
20-41116328-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41116328C>G , CM000682.2:g.41116328C>G | GRCh38 |
| NC_000020.10:g.39744968C>G , CM000682.1:g.39744968C>G | GRCh37 |
| NC_000020.9:g.39178382C>G | NCBI36 |
| NG_012262.1:g.92507C>G | |
| NG_012262.2:g.92507C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361337.3:c.1758C>G (TOP1) MANE Select | ENSP00000354522.2:p.Ala586= | |
| ENST00000680945.1:c.351C>G (TOP1) | ENSP00000504935.1:p.Ala117= | |
| ENST00000681058.1:n.6544C>G (TOP1) | ||
| ENST00000681113.1:c.*1453C>G (TOP1) | ENSP00000505788.1:n.*1453C>G | |
| ENST00000681392.1:n.3066C>G (TOP1) | ||
| ENST00000681884.1:n.3020C>G (TOP1) | ||
| ENST00000361337.2:c.1758C>G (TOP1) | ENSP00000354522.2:p.Ala586= | |
| NM_003286.2:c.1758C>G (TOP1) | NP_003277.1:p.Ala586= | |
| NR_109889.1:n.711-15039G>C (PLCG1-AS1) | ||
| XM_011529032.1:c.1254C>G (TOP1) | XP_011527334.1:p.Ala418= | |
| XM_011529033.1:c.1020C>G (TOP1) | XP_011527335.1:p.Ala340= | |
| NM_003286.3:c.1758C>G (TOP1) | NP_003277.1:p.Ala586= | |
| NM_003286.4:c.1758C>G (TOP1) MANE Select | NP_003277.1:p.Ala586= |