Linked Data
dbSNP Id:
rs779925985
ExAC:
1:17720830 AG / A
gnomAD v2:
1-17720830-AG-A
gnomAD v4:
1-17394334-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17394336del , CM000663.2:g.17394336del | GRCh38 |
| NC_000001.10:g.17720832del , CM000663.1:g.17720832del | GRCh37 |
| NC_000001.9:g.17593419del | NCBI36 |
| NG_032943.1:g.27091del | |
| NG_032943.2:g.27091del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1219del MANE Select | ENSP00000483125.1:p.Asp407ThrfsTer13 | |
| NM_207421.4:c.1219del MANE Select | NP_997304.3:p.Asp407ThrfsTer13 |