Linked Data
ClinVar Variation Id:
2724
ClinVar RCV Id:
RCV000002843
dbSNP Id:
rs267606776
ExAC:
18:28971156 C / G
gnomAD v2:
18-28971156-C-G
gnomAD v4:
18-31391193-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31391193C>G , CM000680.2:g.31391193C>G | GRCh38 |
| NC_000018.9:g.28971156C>G , CM000680.1:g.28971156C>G | GRCh37 |
| NC_000018.8:g.27225154C>G | NCBI36 |
| NG_013040.1:g.19417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.800C>G (DSG4) MANE Select | ENSP00000311859.4:p.Pro267Arg | |
| ENST00000308128.8:c.800C>G (DSG4) | ENSP00000311859.4:p.Pro267Arg | |
| ENST00000359747.4:c.800C>G (DSG4) | ENSP00000352785.4:p.Pro267Arg | |
| NM_001134453.1:c.800C>G (DSG4) | NP_001127925.1:p.Pro267Arg | |
| NM_177986.3:c.800C>G (DSG4) | NP_817123.1:p.Pro267Arg | |
| NR_110788.1:n.156+35640G>C (DSG1-AS1) | ||
| NM_001134453.2:c.800C>G (DSG4) | NP_001127925.1:p.Pro267Arg | |
| NM_177986.4:c.800C>G (DSG4) | NP_817123.1:p.Pro267Arg | |
| NM_177986.5:c.800C>G (DSG4) MANE Select | NP_817123.1:p.Pro267Arg | |
| NM_001134453.3:c.800C>G (DSG4) | NP_001127925.1:p.Pro267Arg |