Linked Data
ClinVar Variation Id:
777510
ClinVar RCV Id:
RCV000957994
dbSNP Id:
rs114142434
ExAC:
19:56154118 C / A
gnomAD v2:
19-56154118-C-A
gnomAD v3:
19-55642752-C-A
gnomAD v4:
19-55642752-C-A
COSMIC:
COSM3693092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55642752C>A , CM000681.2:g.55642752C>A | GRCh38 |
| NC_000019.9:g.56154118C>A , CM000681.1:g.56154118C>A | GRCh37 |
| NC_000019.8:g.60845930C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325333.10:c.244C>A (ZNF580) MANE Select | ENSP00000320050.4:p.Pro82Thr | |
| ENST00000325333.9:c.244C>A (ZNF580) | ENSP00000320050.4:p.Pro82Thr | |
| ENST00000543039.2:c.244C>A (ZNF580) | ENSP00000443957.1:p.Pro82Thr | |
| ENST00000545125.1:c.244C>A (ZNF580) | ENSP00000446126.1:p.Pro82Thr | |
| ENST00000585995.1:c.-20+1569C>A (ZNF581) | ENSP00000466338.1:n.-20+1569C>A | |
| ENST00000587252.5:c.-19-1801C>A (ZNF581) | ENSP00000466047.1:n.-19-1801C>A | |
| ENST00000592461.5:c.244C>A (ZNF580) | ENSP00000467142.1:p.Pro82Thr | |
| ENST00000592881.1:c.244C>A (ZNF580) | ENSP00000468407.1:p.Pro82Thr | |
| ENST00000592996.5:c.-102+1569C>A (CCDC106) | ENSP00000466597.1:n.-102+1569C>A | |
| NM_001163423.1:c.244C>A (ZNF580) | NP_001156895.1:p.Pro82Thr | |
| NM_016202.2:c.244C>A (ZNF580) | NP_057286.1:p.Pro82Thr | |
| NM_207115.1:c.244C>A (ZNF580) | NP_996998.1:p.Pro82Thr | |
| XM_005258967.1:c.283C>A (ZNF580) | XP_005259024.1:p.Pro95Thr | |
| XM_006723236.2:c.244C>A (ZNF580) | XP_006723299.1:p.Pro82Thr | |
| XM_011527022.1:c.244C>A (ZNF580) | XP_011525324.1:p.Pro82Thr | |
| XM_017026867.1:c.-19-1801C>A (ZNF581) | XP_016882356.1:n.-19-1801C>A | |
| NM_207115.2:c.244C>A (ZNF580) MANE Select | NP_996998.1:p.Pro82Thr | |
| NM_001163423.2:c.244C>A (ZNF580) | NP_001156895.1:p.Pro82Thr |