Linked Data
dbSNP Id:
rs782324701
ExAC:
7:73097390 C / T
gnomAD v2:
7-73097390-C-T
gnomAD v3:
7-73683060-C-T
gnomAD v4:
7-73683060-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683060C>T , CM000669.2:g.73683060C>T | GRCh38 |
| NC_000007.13:g.73097390C>T , CM000669.1:g.73097390C>T | GRCh37 |
| NC_000007.12:g.72735326C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.364G>A (DNAJC30) MANE Select | ENSP00000378605.1:p.Gly122Arg | |
| ENST00000395176.2:c.364G>A (DNAJC30) | ENSP00000378605.1:p.Gly122Arg | |
| ENST00000464615.1:n.36C>T (BUD23) | ||
| NM_032317.2:c.364G>A (DNAJC30) | NP_115693.2:p.Gly122Arg | |
| NM_032317.3:c.364G>A (DNAJC30) MANE Select | NP_115693.2:p.Gly122Arg |