Linked Data
dbSNP Id:
rs766950774
ExAC:
13:25457272 A / G
gnomAD v2:
13-25457272-A-G
gnomAD v4:
13-24883134-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24883134A>G , CM000675.2:g.24883134A>G | GRCh38 |
| NC_000013.10:g.25457272A>G , CM000675.1:g.25457272A>G | GRCh37 |
| NC_000013.9:g.24355272A>G | NCBI36 |
| NG_009165.2:g.44814T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.*43T>C (CENPJ) MANE Select | ENSP00000371308.4:n.*43T>C | |
| ENST00000381884.8:c.*43T>C (CENPJ) | ENSP00000371308.4:n.*43T>C | |
| ENST00000616936.4:c.*714T>C (CENPJ) | ENSP00000477511.1:n.*714T>C | |
| NM_018451.4:c.*43T>C (CENPJ) | NP_060921.3:n.*43T>C | |
| NR_047594.1:n.4372T>C (CENPJ) | ||
| NR_047595.1:n.4170T>C (CENPJ) | ||
| XM_011535156.1:c.*10+3839A>G (RNF17) | XP_011533458.1:n.*10+3839A>G | |
| XM_011535156.2:c.*10+3839A>G (RNF17) | XP_011533458.1:n.*10+3839A>G | |
| NM_018451.5:c.*43T>C (CENPJ) MANE Select | NP_060921.3:n.*43T>C | |
| NR_047594.2:n.4344T>C (CENPJ) | ||
| NR_047595.2:n.4142T>C (CENPJ) |