Linked Data
ClinVar Variation Id:
16774
ClinVar RCV Id:
RCV000018262
dbSNP Id:
rs121434562
PubMed:
PMID:12097280
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41101297G>A , CM000682.2:g.41101297G>A | GRCh38 |
| NC_000020.10:g.39729937G>A , CM000682.1:g.39729937G>A | GRCh37 |
| NC_000020.9:g.39163351G>A | NCBI36 |
| NG_012262.1:g.77476G>A | |
| NG_012262.2:g.77476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361337.3:c.1252G>A (TOP1) MANE Select | ENSP00000354522.2:p.Glu418Lys | |
| ENST00000681058.1:n.6038G>A (TOP1) | ||
| ENST00000681113.1:c.*947G>A (TOP1) | ENSP00000505788.1:n.*947G>A | |
| ENST00000681392.1:n.2560G>A (TOP1) | ||
| ENST00000681884.1:n.2514G>A (TOP1) | ||
| ENST00000361337.2:c.1252G>A (TOP1) | ENSP00000354522.2:p.Glu418Lys | |
| NM_003286.2:c.1252G>A (TOP1) | NP_003277.1:p.Glu418Lys | |
| NR_109889.1:n.711-8C>T (PLCG1-AS1) | ||
| XM_011529032.1:c.748G>A (TOP1) | XP_011527334.1:p.Glu250Lys | |
| XM_011529033.1:c.514G>A (TOP1) | XP_011527335.1:p.Glu172Lys | |
| NM_003286.3:c.1252G>A (TOP1) | NP_003277.1:p.Glu418Lys | |
| NM_003286.4:c.1252G>A (TOP1) MANE Select | NP_003277.1:p.Glu418Lys |