Linked Data
dbSNP Id:
rs782464715
ExAC:
7:73097377 C / G
gnomAD v2:
7-73097377-C-G
gnomAD v4:
7-73683047-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683047C>G , CM000669.2:g.73683047C>G | GRCh38 |
| NC_000007.13:g.73097377C>G , CM000669.1:g.73097377C>G | GRCh37 |
| NC_000007.12:g.72735313C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.377G>C (DNAJC30) MANE Select | ENSP00000378605.1:p.Arg126Pro | |
| ENST00000395176.2:c.377G>C (DNAJC30) | ENSP00000378605.1:p.Arg126Pro | |
| ENST00000464615.1:n.23C>G (BUD23) | ||
| NM_032317.2:c.377G>C (DNAJC30) | NP_115693.2:p.Arg126Pro | |
| NM_032317.3:c.377G>C (DNAJC30) MANE Select | NP_115693.2:p.Arg126Pro |