Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506729G>T , CM000672.2:g.122506729G>T | GRCh38 |
| NC_000010.10:g.124266245G>T , CM000672.1:g.124266245G>T | GRCh37 |
| NC_000010.9:g.124256235G>T | NCBI36 |
| NG_011554.1:g.50205G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.816G>T MANE Select | ENSP00000357980.3:p.Glu272Asp | |
| ENST00000648167.1:c.498G>T | ENSP00000498033.1:p.Glu166Asp | |
| ENST00000368984.7:c.816G>T | ENSP00000357980.3:p.Glu272Asp | |
| ENST00000420892.1:c.39G>T | ENSP00000412676.1:p.Glu13Asp | |
| NM_002775.4:c.816G>T | NP_002766.1:p.Glu272Asp | |
| NM_002775.5:c.816G>T MANE Select | NP_002766.1:p.Glu272Asp |