Linked Data
dbSNP Id:
rs782587007
ExAC:
7:73097567 C / T
gnomAD v2:
7-73097567-C-T
gnomAD v4:
7-73683237-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683237C>T , CM000669.2:g.73683237C>T | GRCh38 |
| NC_000007.13:g.73097567C>T , CM000669.1:g.73097567C>T | GRCh37 |
| NC_000007.12:g.72735503C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.187G>A (DNAJC30) MANE Select | ENSP00000378605.1:p.Ala63Thr | |
| ENST00000395176.2:c.187G>A (DNAJC30) | ENSP00000378605.1:p.Ala63Thr | |
| ENST00000464615.1:n.213C>T (BUD23) | ||
| NM_032317.2:c.187G>A (DNAJC30) | NP_115693.2:p.Ala63Thr | |
| NM_032317.3:c.187G>A (DNAJC30) MANE Select | NP_115693.2:p.Ala63Thr |