Linked Data
dbSNP Id:
rs552883565
gnomAD v2:
13-25457104-G-T
gnomAD v3:
13-24882966-G-T
gnomAD v4:
13-24882966-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24882966G>T , CM000675.2:g.24882966G>T | GRCh38 |
| NC_000013.10:g.25457104G>T , CM000675.1:g.25457104G>T | GRCh37 |
| NC_000013.9:g.24355104G>T | NCBI36 |
| NG_009165.2:g.44982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.*211C>A (CENPJ) MANE Select | ENSP00000371308.4:n.*211C>A | |
| ENST00000616936.4:c.*882C>A (CENPJ) | ENSP00000477511.1:n.*882C>A | |
| NM_018451.4:c.*211C>A (CENPJ) | NP_060921.3:n.*211C>A | |
| NR_047594.1:n.4540C>A (CENPJ) | ||
| NR_047595.1:n.4338C>A (CENPJ) | ||
| XM_011535156.1:c.*10+3671G>T (RNF17) | XP_011533458.1:n.*10+3671G>T | |
| XM_011535156.2:c.*10+3671G>T (RNF17) | XP_011533458.1:n.*10+3671G>T | |
| NM_018451.5:c.*211C>A (CENPJ) MANE Select | NP_060921.3:n.*211C>A | |
| NR_047594.2:n.4512C>A (CENPJ) | ||
| NR_047595.2:n.4310C>A (CENPJ) |