Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45994209G>A , CM000683.2:g.45994209G>A | GRCh38 |
| NC_000021.8:g.47414123G>A , CM000683.1:g.47414123G>A | GRCh37 |
| NC_000021.7:g.46238551G>A | NCBI36 |
| NG_008674.1:g.17461G>A , LRG_475:g.17461G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.1378G>A MANE Select | NP_001839.2:p.Val460Ile |
| ENST00000361866.8:c.1378G>A MANE Select | ENSP00000355180.3:p.Val460Ile |
| NM_001848.2:c.1378G>A , LRG_475t1:c.1378G>A | NP_001839.2:p.Val460Ile |
| ENST00000361866.7:c.1378G>A | ENSP00000355180.3:p.Val460Ile |
| ENST00000612273.1:c.1378G>A | ENSP00000483630.1:p.Val460Ile |
| ENST00000683550.1:n.153G>A |