Linked Data
dbSNP Id:
rs1228755347
gnomAD v2:
20-39744901-T-C
gnomAD v3:
20-41116261-T-C
gnomAD v4:
20-41116261-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41116261T>C , CM000682.2:g.41116261T>C | GRCh38 |
| NC_000020.10:g.39744901T>C , CM000682.1:g.39744901T>C | GRCh37 |
| NC_000020.9:g.39178315T>C | NCBI36 |
| NG_012262.1:g.92440T>C | |
| NG_012262.2:g.92440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361337.3:c.1708-17T>C (TOP1) MANE Select | ENSP00000354522.2:n.1708-17T>C | |
| ENST00000680945.1:c.301-17T>C (TOP1) | ENSP00000504935.1:n.301-17T>C | |
| ENST00000681058.1:n.6494-17T>C (TOP1) | ||
| ENST00000681113.1:c.*1403-17T>C (TOP1) | ENSP00000505788.1:n.*1403-17T>C | |
| ENST00000681392.1:n.3016-17T>C (TOP1) | ||
| ENST00000681884.1:n.2970-17T>C (TOP1) | ||
| ENST00000361337.2:c.1708-17T>C (TOP1) | ENSP00000354522.2:n.1708-17T>C | |
| NM_003286.2:c.1708-17T>C (TOP1) | NP_003277.1:n.1708-17T>C | |
| NR_109889.1:n.711-14972A>G (PLCG1-AS1) | ||
| XM_011529032.1:c.1204-17T>C (TOP1) | XP_011527334.1:n.1204-17T>C | |
| XM_011529033.1:c.970-17T>C (TOP1) | XP_011527335.1:n.970-17T>C | |
| NM_003286.3:c.1708-17T>C (TOP1) | NP_003277.1:n.1708-17T>C | |
| NM_003286.4:c.1708-17T>C (TOP1) MANE Select | NP_003277.1:n.1708-17T>C |