Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046394C>G , CM000667.2:g.136046394C>G | GRCh38 |
| NC_000005.9:g.135382083C>G , CM000667.1:g.135382083C>G | GRCh37 |
| NC_000005.8:g.135409982C>G | NCBI36 |
| NG_012646.1:g.22500C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.358C>G MANE Select | ENSP00000416330.2:p.Leu120Val | |
| ENST00000442011.6:c.358C>G | ENSP00000416330.2:p.Leu120Val | |
| ENST00000504185.5:n.515C>G | ||
| ENST00000506699.5:n.423C>G | ||
| ENST00000507018.5:c.275C>G | ||
| ENST00000515433.1:n.650C>G | ||
| NM_000358.2:c.358C>G | NP_000349.1:p.Leu120Val | |
| NM_000358.3:c.358C>G MANE Select | NP_000349.1:p.Leu120Val |