Linked Data
ClinVar Variation Id:
344243
dbSNP Id:
rs555590913
gnomAD v2:
3-180332164-G-T
gnomAD v3:
3-180614376-G-T
gnomAD v4:
3-180614376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180614376G>T , CM000665.2:g.180614376G>T | GRCh38 |
| NC_000003.11:g.180332164G>T , CM000665.1:g.180332164G>T | GRCh37 |
| NC_000003.10:g.181814858G>T | NCBI36 |
| NG_029581.1:g.70120C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.*545C>A (CCDC39) MANE Select | ENSP00000417960.2:n.*545C>A | |
| ENST00000489868.6:c.186-512C>A (CCDC39) | ENSP00000420025.1:n.186-512C>A | |
| ENST00000651046.1:c.*545C>A (CCDC39) | ENSP00000499175.1:n.*545C>A | |
| ENST00000651922.1:n.2696C>A (CCDC39) | ||
| ENST00000652010.1:n.3447C>A (CCDC39) | ||
| ENST00000382584.8:c.1775-3004G>T (TTC14) | ENSP00000372027.4:n.1775-3004G>T | |
| ENST00000473854.5:c.303-512C>A | ||
| ENST00000476379.5:c.*1195C>A | ENSP00000417960.1:n.*1195C>A | |
| ENST00000489868.5:c.186-512C>A | ENSP00000420025.1:n.186-512C>A | |
| NM_001288582.1:c.1775-3004G>T (TTC14) | NP_001275511.1:n.1775-3004G>T | |
| NM_181426.1:c.*545C>A (CCDC39) | NP_852091.1:n.*545C>A | |
| NM_181426.2:c.*545C>A (CCDC39) MANE Select | NP_852091.1:n.*545C>A | |
| NM_001288582.2:c.1775-3004G>T (TTC14) | NP_001275511.1:n.1775-3004G>T |