Linked Data
dbSNP Id:
rs1183148341
gnomAD v2:
20-39744786-T-C
gnomAD v3:
20-41116146-T-C
gnomAD v4:
20-41116146-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41116146T>C , CM000682.2:g.41116146T>C | GRCh38 |
| NC_000020.10:g.39744786T>C , CM000682.1:g.39744786T>C | GRCh37 |
| NC_000020.9:g.39178200T>C | NCBI36 |
| NG_012262.1:g.92325T>C | |
| NG_012262.2:g.92325T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361337.3:c.1708-132T>C (TOP1) MANE Select | ENSP00000354522.2:n.1708-132T>C | |
| ENST00000680945.1:c.301-132T>C (TOP1) | ENSP00000504935.1:n.301-132T>C | |
| ENST00000681058.1:n.6494-132T>C (TOP1) | ||
| ENST00000681113.1:c.*1403-132T>C (TOP1) | ENSP00000505788.1:n.*1403-132T>C | |
| ENST00000681392.1:n.3016-132T>C (TOP1) | ||
| ENST00000681884.1:n.2970-132T>C (TOP1) | ||
| ENST00000361337.2:c.1708-132T>C (TOP1) | ENSP00000354522.2:n.1708-132T>C | |
| NM_003286.2:c.1708-132T>C (TOP1) | NP_003277.1:n.1708-132T>C | |
| NR_109889.1:n.711-14857A>G (PLCG1-AS1) | ||
| XM_011529032.1:c.1204-132T>C (TOP1) | XP_011527334.1:n.1204-132T>C | |
| XM_011529033.1:c.970-132T>C (TOP1) | XP_011527335.1:n.970-132T>C | |
| NM_003286.3:c.1708-132T>C (TOP1) | NP_003277.1:n.1708-132T>C | |
| NM_003286.4:c.1708-132T>C (TOP1) MANE Select | NP_003277.1:n.1708-132T>C |