Linked Data
ClinVar Variation Id:
311584
dbSNP Id:
rs17480581
gnomAD v2:
13-25456425-A-G
gnomAD v3:
13-24882287-A-G
gnomAD v4:
13-24882287-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24882287A>G , CM000675.2:g.24882287A>G | GRCh38 |
| NC_000013.10:g.25456425A>G , CM000675.1:g.25456425A>G | GRCh37 |
| NC_000013.9:g.24354425A>G | NCBI36 |
| NG_009165.2:g.45661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.*890T>C (CENPJ) MANE Select | ENSP00000371308.4:n.*890T>C | |
| ENST00000616936.4:c.*1561T>C (CENPJ) | ENSP00000477511.1:n.*1561T>C | |
| NM_018451.4:c.*890T>C (CENPJ) | NP_060921.3:n.*890T>C | |
| NR_047594.1:n.5219T>C (CENPJ) | ||
| NR_047595.1:n.5017T>C (CENPJ) | ||
| XM_011535156.1:c.*10+2992A>G (RNF17) | XP_011533458.1:n.*10+2992A>G | |
| XM_011535156.2:c.*10+2992A>G (RNF17) | XP_011533458.1:n.*10+2992A>G | |
| NM_018451.5:c.*890T>C (CENPJ) MANE Select | NP_060921.3:n.*890T>C | |
| NR_047594.2:n.5191T>C (CENPJ) | ||
| NR_047595.2:n.4989T>C (CENPJ) |