Linked Data
ClinVar Variation Id:
3085975
ClinVar RCV Id:
RCV004377295
dbSNP Id:
rs765676569
ExAC:
18:28968961 T / C
gnomAD v2:
18-28968961-T-C
gnomAD v3:
18-31388998-T-C
gnomAD v4:
18-31388998-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31388998T>C , CM000680.2:g.31388998T>C | GRCh38 |
| NC_000018.9:g.28968961T>C , CM000680.1:g.28968961T>C | GRCh37 |
| NC_000018.8:g.27222959T>C | NCBI36 |
| NG_013040.1:g.17222T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.497T>C (DSG4) MANE Select | ENSP00000311859.4:p.Ile166Thr | |
| ENST00000308128.8:c.497T>C (DSG4) | ENSP00000311859.4:p.Ile166Thr | |
| ENST00000359747.4:c.497T>C (DSG4) | ENSP00000352785.4:p.Ile166Thr | |
| NM_001134453.1:c.497T>C (DSG4) | NP_001127925.1:p.Ile166Thr | |
| NM_177986.3:c.497T>C (DSG4) | NP_817123.1:p.Ile166Thr | |
| NR_110788.1:n.157-34545A>G (DSG1-AS1) | ||
| NM_001134453.2:c.497T>C (DSG4) | NP_001127925.1:p.Ile166Thr | |
| NM_177986.4:c.497T>C (DSG4) | NP_817123.1:p.Ile166Thr | |
| NM_177986.5:c.497T>C (DSG4) MANE Select | NP_817123.1:p.Ile166Thr | |
| NM_001134453.3:c.497T>C (DSG4) | NP_001127925.1:p.Ile166Thr |