Linked Data
ClinVar Variation Id:
2983058
ClinVar RCV Id:
RCV003847673
dbSNP Id:
rs747038781
ExAC:
13:25457320 G / A
gnomAD v2:
13-25457320-G-A
gnomAD v4:
13-24883182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24883182G>A , CM000675.2:g.24883182G>A | GRCh38 |
| NC_000013.10:g.25457320G>A , CM000675.1:g.25457320G>A | GRCh37 |
| NC_000013.9:g.24355320G>A | NCBI36 |
| NG_009165.2:g.44766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381884.9:c.4012C>T (CENPJ) MANE Select | ENSP00000371308.4:p.Leu1338= | |
| ENST00000545981.6:c.*752C>T (CENPJ) | ENSP00000441090.2:n.*752C>T | |
| ENST00000381884.8:c.4012C>T (CENPJ) | ENSP00000371308.4:p.Leu1338= | |
| ENST00000545981.5:c.*753C>T (CENPJ) | ENSP00000441090.2:n.*753C>T | |
| ENST00000616936.4:c.*666C>T (CENPJ) | ENSP00000477511.1:n.*666C>T | |
| NM_018451.4:c.4012C>T (CENPJ) | NP_060921.3:p.Leu1338= | |
| NR_047594.1:n.4324C>T (CENPJ) | ||
| NR_047595.1:n.4122C>T (CENPJ) | ||
| XM_011535156.1:c.*10+3887G>A (RNF17) | XP_011533458.1:n.*10+3887G>A | |
| XM_011535156.2:c.*10+3887G>A (RNF17) | XP_011533458.1:n.*10+3887G>A | |
| NM_018451.5:c.4012C>T (CENPJ) MANE Select | NP_060921.3:p.Leu1338= | |
| NR_047594.2:n.4296C>T (CENPJ) | ||
| NR_047595.2:n.4094C>T (CENPJ) |