Linked Data
ClinVar Variation Id:
262972
dbSNP Id:
rs751844801
ExAC:
3:180332712 T / C
gnomAD v2:
3-180332712-T-C
gnomAD v3:
3-180614924-T-C
gnomAD v4:
3-180614924-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180614924T>C , CM000665.2:g.180614924T>C | GRCh38 |
| NC_000003.11:g.180332712T>C , CM000665.1:g.180332712T>C | GRCh37 |
| NC_000003.10:g.181815406T>C | NCBI36 |
| NG_029581.1:g.69572A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.2823A>G (CCDC39) MANE Select | ENSP00000417960.2:p.Lys941= | |
| ENST00000489868.6:c.186-1060A>G (CCDC39) | ENSP00000420025.1:n.186-1060A>G | |
| ENST00000651046.1:c.2631A>G (CCDC39) | ENSP00000499175.1:p.Lys877= | |
| ENST00000651922.1:n.2148A>G (CCDC39) | ||
| ENST00000652010.1:n.2899A>G (CCDC39) | ||
| ENST00000382584.8:c.1775-2456T>C (TTC14) | ENSP00000372027.4:n.1775-2456T>C | |
| ENST00000442201.6:c.2823A>G | ENSP00000405708.2:p.Lys941= | |
| ENST00000473854.5:c.302+72A>G | ||
| ENST00000476379.5:c.*647A>G | ENSP00000417960.1:n.*647A>G | |
| ENST00000489868.5:c.186-1060A>G | ENSP00000420025.1:n.186-1060A>G | |
| NM_001288582.1:c.1775-2456T>C (TTC14) | NP_001275511.1:n.1775-2456T>C | |
| NM_181426.1:c.2823A>G (CCDC39) | NP_852091.1:p.Lys941= | |
| NM_181426.2:c.2823A>G (CCDC39) MANE Select | NP_852091.1:p.Lys941= | |
| NM_001288582.2:c.1775-2456T>C (TTC14) | NP_001275511.1:n.1775-2456T>C |