Linked Data
dbSNP Id:
rs1554611870
gnomAD v2:
7-73097727-C-A
gnomAD v3:
7-73683397-C-A
gnomAD v4:
7-73683397-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683397C>A , CM000669.2:g.73683397C>A | GRCh38 |
| NC_000007.13:g.73097727C>A , CM000669.1:g.73097727C>A | GRCh37 |
| NC_000007.12:g.72735663C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.27G>T (DNAJC30) MANE Select | ENSP00000378605.1:p.Trp9Cys | |
| ENST00000395176.2:c.27G>T (DNAJC30) | ENSP00000378605.1:p.Trp9Cys | |
| ENST00000464615.1:n.359+14C>A (BUD23) | ||
| NM_032317.2:c.27G>T (DNAJC30) | NP_115693.2:p.Trp9Cys | |
| NM_032317.3:c.27G>T (DNAJC30) MANE Select | NP_115693.2:p.Trp9Cys |