Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423035G>A , CM000669.2:g.94423035G>A | GRCh38 |
| NC_000007.13:g.94052347G>A , CM000669.1:g.94052347G>A | GRCh37 |
| NC_000007.12:g.93890283G>A | NCBI36 |
| NG_007405.1:g.33475G>A , LRG_2:g.33475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2482G>A MANE Select | ENSP00000297268.6:p.Val828Ile | |
| ENST00000297268.10:c.2482G>A | ENSP00000297268.6:p.Val828Ile | |
| ENST00000481570.5:n.565G>A | ||
| ENST00000497316.5:n.879G>A | ||
| ENST00000620463.1:c.2476G>A | ENSP00000477719.1:p.Val826Ile | |
| NM_000089.3:c.2482G>A , LRG_2t1:c.2482G>A | NP_000080.2:p.Val828Ile | |
| NM_000089.4:c.2482G>A MANE Select | NP_000080.2:p.Val828Ile |