Linked Data
ClinVar Variation Id:
2657565
ClinVar RCV Id:
RCV003433867
dbSNP Id:
rs782179907
ExAC:
7:73097357 G / A
gnomAD v2:
7-73097357-G-A
gnomAD v3:
7-73683027-G-A
gnomAD v4:
7-73683027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683027G>A , CM000669.2:g.73683027G>A | GRCh38 |
| NC_000007.13:g.73097357G>A , CM000669.1:g.73097357G>A | GRCh37 |
| NC_000007.12:g.72735293G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.397C>T (DNAJC30) MANE Select | ENSP00000378605.1:p.Pro133Ser | |
| ENST00000395176.2:c.397C>T (DNAJC30) | ENSP00000378605.1:p.Pro133Ser | |
| ENST00000464615.1:n.3G>A (BUD23) | ||
| NM_032317.2:c.397C>T (DNAJC30) | NP_115693.2:p.Pro133Ser | |
| NM_032317.3:c.397C>T (DNAJC30) MANE Select | NP_115693.2:p.Pro133Ser |