Linked Data
ClinVar Variation Id:
326425
ClinVar RCV Id:
RCV000307735
dbSNP Id:
rs146853509
ExAC:
18:28971071 G / A
gnomAD v2:
18-28971071-G-A
gnomAD v3:
18-31391108-G-A
gnomAD v4:
18-31391108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31391108G>A , CM000680.2:g.31391108G>A | GRCh38 |
| NC_000018.9:g.28971071G>A , CM000680.1:g.28971071G>A | GRCh37 |
| NC_000018.8:g.27225069G>A | NCBI36 |
| NG_013040.1:g.19332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.715G>A (DSG4) MANE Select | ENSP00000311859.4:p.Gly239Ser | |
| ENST00000308128.8:c.715G>A (DSG4) | ENSP00000311859.4:p.Gly239Ser | |
| ENST00000359747.4:c.715G>A (DSG4) | ENSP00000352785.4:p.Gly239Ser | |
| NM_001134453.1:c.715G>A (DSG4) | NP_001127925.1:p.Gly239Ser | |
| NM_177986.3:c.715G>A (DSG4) | NP_817123.1:p.Gly239Ser | |
| NR_110788.1:n.156+35725C>T (DSG1-AS1) | ||
| NM_001134453.2:c.715G>A (DSG4) | NP_001127925.1:p.Gly239Ser | |
| NM_177986.4:c.715G>A (DSG4) | NP_817123.1:p.Gly239Ser | |
| NM_177986.5:c.715G>A (DSG4) MANE Select | NP_817123.1:p.Gly239Ser | |
| NM_001134453.3:c.715G>A (DSG4) | NP_001127925.1:p.Gly239Ser |