Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598656T>A , CM000680.2:g.31598656T>A | GRCh38 |
| NC_000018.9:g.29178619T>A , CM000680.1:g.29178619T>A | GRCh37 |
| NC_000018.8:g.27432617T>A | NCBI36 |
| NG_009490.1:g.11890T>A , LRG_416:g.11890T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.425T>A MANE Select | ENSP00000237014.4:p.Val142Asp | |
| ENST00000610404.5:c.329T>A | ENSP00000477599.2:p.Val110Asp | |
| ENST00000649620.1:c.425T>A | ENSP00000497927.1:p.Val142Asp | |
| ENST00000237014.7:c.425T>A | ENSP00000237014.3:p.Val142Asp | |
| ENST00000610404.4:c.539T>A | ENSP00000477599.1:p.Val180Asp | |
| ENST00000613781.1:c.401T>A | ENSP00000479174.1:p.Val134Asp | |
| NM_000371.3:c.425T>A , LRG_416t1:c.425T>A | NP_000362.1:p.Val142Asp | |
| NM_000371.4:c.425T>A MANE Select | NP_000362.1:p.Val142Asp |