Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70206140T>A , CM000673.2:g.70206140T>A | GRCh38 |
| NC_000011.9:g.70052246T>A , CM000673.1:g.70052246T>A | GRCh37 |
| NC_000011.8:g.69729894T>A | NCBI36 |
| NG_027966.1:g.7978T>A , LRG_228:g.7978T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301838.5:c.294T>A MANE Select | ENSP00000301838.5:p.Cys98Ter | |
| ENST00000301838.4:c.294T>A | ENSP00000301838.4:p.Cys98Ter | |
| NM_003824.3:c.294T>A , LRG_228t1:c.294T>A | NP_003815.1:p.Cys98Ter | |
| NM_003824.4:c.294T>A MANE Select | NP_003815.1:p.Cys98Ter |