Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184089G>C , CM000667.2:g.67184089G>C | GRCh38 |
| NC_000005.9:g.66479917G>C , CM000667.1:g.66479917G>C | GRCh37 |
| NC_000005.8:g.66515673G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.754C>G MANE Select | ENSP00000256447.4:p.Leu252Val | |
| NM_005582.2:c.754C>G | NP_005573.2:p.Leu252Val | |
| XM_005248504.3:c.715C>G | XP_005248561.1:p.Leu239Val | |
| XM_005248504.4:c.715C>G | XP_005248561.1:p.Leu239Val | |
| NM_005582.3:c.754C>G MANE Select | NP_005573.2:p.Leu252Val |