Linked Data
ClinVar Variation Id:
2289343
ClinVar RCV Id:
RCV004139385
dbSNP Id:
rs782726739
ExAC:
7:73097449 C / G
gnomAD v3:
7-73683119-C-G
gnomAD v4:
7-73683119-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683119C>G , CM000669.2:g.73683119C>G | GRCh38 |
| NC_000007.13:g.73097449C>G , CM000669.1:g.73097449C>G | GRCh37 |
| NC_000007.12:g.72735385C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.305G>C (DNAJC30) MANE Select | ENSP00000378605.1:p.Gly102Ala | |
| ENST00000395176.2:c.305G>C (DNAJC30) | ENSP00000378605.1:p.Gly102Ala | |
| ENST00000464615.1:n.95C>G (BUD23) | ||
| NM_032317.2:c.305G>C (DNAJC30) | NP_115693.2:p.Gly102Ala | |
| NM_032317.3:c.305G>C (DNAJC30) MANE Select | NP_115693.2:p.Gly102Ala |