Linked Data
gnomAD v4:
18-31546574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546574T>C , CM000680.2:g.31546574T>C | GRCh38 |
| NC_000018.9:g.29126537T>C , CM000680.1:g.29126537T>C | GRCh37 |
| NC_000018.8:g.27380535T>C | NCBI36 |
| NG_007072.3:g.53333T>C , LRG_397:g.53333T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.3188T>C (DSG2) MANE Select | ENSP00000261590.8:p.Ile1063Thr | |
| ENST00000261590.12:c.3188T>C (DSG2) | ENSP00000261590.8:p.Ile1063Thr | |
| NM_001943.3:c.3188T>C , LRG_397t1:c.3188T>C (DSG2) | NP_001934.2:p.Ile1063Thr | |
| NR_045216.1:n.1346-668A>G (DSG2-AS1) | ||
| NM_001943.4:c.3188T>C (DSG2) | NP_001934.2:p.Ile1063Thr | |
| XM_024451095.1:c.2654T>C (DSG2) | XP_024306863.1:p.Ile885Thr | |
| NM_001943.5:c.3188T>C (DSG2) MANE Select | NP_001934.2:p.Ile1063Thr |