Linked Data
dbSNP Id:
rs782361540
ExAC:
7:73097426 A / T
gnomAD v2:
7-73097426-A-T
gnomAD v4:
7-73683096-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683096A>T , CM000669.2:g.73683096A>T | GRCh38 |
| NC_000007.13:g.73097426A>T , CM000669.1:g.73097426A>T | GRCh37 |
| NC_000007.12:g.72735362A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.328T>A (DNAJC30) MANE Select | ENSP00000378605.1:p.Tyr110Asn | |
| ENST00000395176.2:c.328T>A (DNAJC30) | ENSP00000378605.1:p.Tyr110Asn | |
| ENST00000464615.1:n.72A>T (BUD23) | ||
| NM_032317.2:c.328T>A (DNAJC30) | NP_115693.2:p.Tyr110Asn | |
| NM_032317.3:c.328T>A (DNAJC30) MANE Select | NP_115693.2:p.Tyr110Asn |