Linked Data
ClinVar Variation Id:
326427
dbSNP Id:
rs746863735
ExAC:
18:28972217 T / G
gnomAD v2:
18-28972217-T-G
gnomAD v3:
18-31392254-T-G
gnomAD v4:
18-31392254-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31392254T>G , CM000680.2:g.31392254T>G | GRCh38 |
| NC_000018.9:g.28972217T>G , CM000680.1:g.28972217T>G | GRCh37 |
| NC_000018.8:g.27226215T>G | NCBI36 |
| NG_013040.1:g.20478T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.919T>G (DSG4) MANE Select | ENSP00000311859.4:p.Tyr307Asp | |
| ENST00000308128.8:c.919T>G (DSG4) | ENSP00000311859.4:p.Tyr307Asp | |
| ENST00000359747.4:c.919T>G (DSG4) | ENSP00000352785.4:p.Tyr307Asp | |
| NM_001134453.1:c.919T>G (DSG4) | NP_001127925.1:p.Tyr307Asp | |
| NM_177986.3:c.919T>G (DSG4) | NP_817123.1:p.Tyr307Asp | |
| NR_110788.1:n.156+34579A>C (DSG1-AS1) | ||
| NM_001134453.2:c.919T>G (DSG4) | NP_001127925.1:p.Tyr307Asp | |
| NM_177986.4:c.919T>G (DSG4) | NP_817123.1:p.Tyr307Asp | |
| NM_177986.5:c.919T>G (DSG4) MANE Select | NP_817123.1:p.Tyr307Asp | |
| NM_001134453.3:c.919T>G (DSG4) | NP_001127925.1:p.Tyr307Asp |