Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425477G>C , CM000664.2:g.84425477G>C | GRCh38 |
| NC_000002.11:g.84652601G>C , CM000664.1:g.84652601G>C | GRCh37 |
| NC_000002.10:g.84506112G>C | NCBI36 |
| NG_016755.1:g.38986C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.952C>G MANE Select | ENSP00000377446.2:p.Leu318Val | |
| ENST00000651342.1:c.*392C>G | ENSP00000498471.1:n.*392C>G | |
| ENST00000393868.6:c.952C>G | ENSP00000377446.2:p.Leu318Val | |
| ENST00000484365.1:n.1460C>G | ||
| ENST00000487809.1:n.699C>G | ||
| ENST00000491123.5:n.798C>G | ||
| NM_003849.3:c.952C>G | NP_003840.2:p.Leu318Val | |
| NM_003849.4:c.952C>G MANE Select | NP_003840.2:p.Leu318Val |