Linked Data
dbSNP Id:
rs916310908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045987T>A , CM000674.2:g.5045987T>A | GRCh38 |
| NC_000012.11:g.5155153T>A , CM000674.1:g.5155153T>A | GRCh37 |
| NC_000012.10:g.5025414T>A | NCBI36 |
| NG_012198.1:g.7069T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.1840T>A MANE Select | ENSP00000252321.3:p.Ter614Arg | |
| ENST00000252321.4:c.1840T>A | ENSP00000252321.3:p.Ter614Arg | |
| NM_002234.3:c.1840T>A | NP_002225.2:p.Ter614Arg | |
| NM_002234.4:c.1840T>A MANE Select | NP_002225.2:p.Ter614Arg |