Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637450C>A , CM000672.2:g.92637450C>A | GRCh38 |
| NC_000010.10:g.94397207C>A , CM000672.1:g.94397207C>A | GRCh37 |
| NC_000010.9:g.94387187C>A | NCBI36 |
| NG_032580.1:g.49383C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2065C>A MANE Select | ENSP00000260731.3:p.Leu689Ile | |
| ENST00000676621.1:c.*583C>A | ENSP00000503639.1:n.*583C>A | |
| ENST00000676647.1:c.1858C>A | ENSP00000503394.1:p.Leu620Ile | |
| ENST00000676757.1:c.1858C>A | ENSP00000504289.1:p.Leu620Ile | |
| ENST00000677720.1:c.*39C>A | ENSP00000504840.1:n.*39C>A | |
| ENST00000260731.4:c.2065C>A | ENSP00000260731.3:p.Leu689Ile | |
| NM_004523.3:c.2065C>A | NP_004514.2:p.Leu689Ile | |
| NM_004523.4:c.2065C>A MANE Select | NP_004514.2:p.Leu689Ile |