Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128377867C>A , CM000667.2:g.128377867C>A | GRCh38 |
| NC_000005.9:g.127713560C>A , CM000667.1:g.127713560C>A | GRCh37 |
| NC_000005.8:g.127741459C>A | NCBI36 |
| NG_008750.1:g.165176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.1734G>T MANE Select | ENSP00000262464.4:p.Glu578Asp | |
| ENST00000262464.8:c.1734G>T | ENSP00000262464.4:p.Glu578Asp | |
| ENST00000508053.5:c.1734G>T | ENSP00000424571.1:p.Glu578Asp | |
| ENST00000508989.5:c.1635G>T | ENSP00000425596.1:p.Glu545Asp | |
| ENST00000619499.4:c.1731G>T | ENSP00000482132.1:p.Glu577Asp | |
| NM_001999.3:c.1734G>T | NP_001990.2:p.Glu578Asp | |
| XM_017009228.2:c.1581G>T | XP_016864717.1:p.Glu527Asp | |
| NM_001999.4:c.1734G>T MANE Select | NP_001990.2:p.Glu578Asp |