Linked Data
ClinVar Variation Id:
199758
dbSNP Id:
rs794728063
gnomAD v2:
18-28681912-C-A
gnomAD v3:
18-31101949-C-A
gnomAD v4:
18-31101949-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31101949C>A , CM000680.2:g.31101949C>A | GRCh38 |
| NC_000018.9:g.28681912C>A , CM000680.1:g.28681912C>A | GRCh37 |
| NC_000018.8:g.26935910C>A | NCBI36 |
| NG_008208.2:g.5477G>T , LRG_400:g.5477G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.-361+487G>T (DSC2) | ENSP00000507826.1:n.-361+487G>T | |
| ENST00000251081.8:c.23G>T (DSC2) | ENSP00000251081.6:p.Gly8Val | |
| ENST00000280904.11:c.23G>T (DSC2) MANE Select | ENSP00000280904.6:p.Gly8Val | |
| ENST00000648081.1:c.-398+487G>T (DSC2) | ENSP00000497441.1:n.-398+487G>T | |
| ENST00000251081.6:c.23G>T (DSC2) | ENSP00000251081.6:p.Gly8Val | |
| ENST00000280904.10:c.23G>T (DSC2) | ENSP00000280904.6:p.Gly8Val | |
| NM_004949.4:c.23G>T (DSC2) | NP_004940.1:p.Gly8Val | |
| NM_024422.4:c.23G>T (DSC2) | NP_077740.1:p.Gly8Val | |
| NR_110785.1:n.136+226C>A (DSCAS) | ||
| NM_004949.5:c.23G>T (DSC2) | NP_004940.1:p.Gly8Val | |
| NM_024422.6:c.23G>T (DSC2) MANE Select | NP_077740.1:p.Gly8Val |