Linked Data
dbSNP Id:
rs2034328723
gnomAD v4:
20-41116289-G-C
MyVariant Identifiers:
chr20:g.39744929G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41116289G>C , CM000682.2:g.41116289G>C | GRCh38 |
| NC_000020.10:g.39744929G>C , CM000682.1:g.39744929G>C | GRCh37 |
| NC_000020.9:g.39178343G>C | NCBI36 |
| NG_012262.1:g.92468G>C | |
| NG_012262.2:g.92468G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361337.3:c.1719G>C (TOP1) MANE Select | ENSP00000354522.2:p.Leu573= | |
| ENST00000680945.1:c.312G>C (TOP1) | ENSP00000504935.1:p.Leu104= | |
| ENST00000681058.1:n.6505G>C (TOP1) | ||
| ENST00000681113.1:c.*1414G>C (TOP1) | ENSP00000505788.1:n.*1414G>C | |
| ENST00000681392.1:n.3027G>C (TOP1) | ||
| ENST00000681884.1:n.2981G>C (TOP1) | ||
| ENST00000361337.2:c.1719G>C (TOP1) | ENSP00000354522.2:p.Leu573= | |
| NM_003286.2:c.1719G>C (TOP1) | NP_003277.1:p.Leu573= | |
| NR_109889.1:n.711-15000C>G (PLCG1-AS1) | ||
| XM_011529032.1:c.1215G>C (TOP1) | XP_011527334.1:p.Leu405= | |
| XM_011529033.1:c.981G>C (TOP1) | XP_011527335.1:p.Leu327= | |
| NM_003286.3:c.1719G>C (TOP1) | NP_003277.1:p.Leu573= | |
| NM_003286.4:c.1719G>C (TOP1) MANE Select | NP_003277.1:p.Leu573= |