Linked Data
ClinVar Variation Id:
891463
ClinVar RCV Id:
RCV001126777
dbSNP Id:
rs2072219514
gnomAD v4:
18-31388929-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31388929T>G , CM000680.2:g.31388929T>G | GRCh38 |
| NC_000018.9:g.28968892T>G , CM000680.1:g.28968892T>G | GRCh37 |
| NC_000018.8:g.27222890T>G | NCBI36 |
| NG_013040.1:g.17153T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.428T>G (DSG4) MANE Select | ENSP00000311859.4:p.Leu143Arg | |
| ENST00000308128.8:c.428T>G (DSG4) | ENSP00000311859.4:p.Leu143Arg | |
| ENST00000359747.4:c.428T>G (DSG4) | ENSP00000352785.4:p.Leu143Arg | |
| NM_001134453.1:c.428T>G (DSG4) | NP_001127925.1:p.Leu143Arg | |
| NM_177986.3:c.428T>G (DSG4) | NP_817123.1:p.Leu143Arg | |
| NR_110788.1:n.157-34476A>C (DSG1-AS1) | ||
| NM_001134453.2:c.428T>G (DSG4) | NP_001127925.1:p.Leu143Arg | |
| NM_177986.4:c.428T>G (DSG4) | NP_817123.1:p.Leu143Arg | |
| NM_177986.5:c.428T>G (DSG4) MANE Select | NP_817123.1:p.Leu143Arg | |
| NM_001134453.3:c.428T>G (DSG4) | NP_001127925.1:p.Leu143Arg |