Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046364C>G , CM000667.2:g.136046364C>G | GRCh38 |
| NC_000005.9:g.135382053C>G , CM000667.1:g.135382053C>G | GRCh37 |
| NC_000005.8:g.135409952C>G | NCBI36 |
| NG_012646.1:g.22470C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.328C>G MANE Select | ENSP00000416330.2:p.Leu110Val | |
| ENST00000442011.6:c.328C>G | ENSP00000416330.2:p.Leu110Val | |
| ENST00000504185.5:n.485C>G | ||
| ENST00000506699.5:n.393C>G | ||
| ENST00000507018.5:c.245C>G | ||
| ENST00000515433.1:n.620C>G | ||
| NM_000358.2:c.328C>G | NP_000349.1:p.Leu110Val | |
| NM_000358.3:c.328C>G MANE Select | NP_000349.1:p.Leu110Val |