Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845347A>C , CM000681.2:g.40845347A>C | GRCh38 |
| NC_000019.9:g.41351252A>C , CM000681.1:g.41351252A>C | GRCh37 |
| NC_000019.8:g.46043092A>C | NCBI36 |
| NG_008377.1:g.10101T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.1108T>G MANE Select | ENSP00000301141.4:p.Leu370Val | |
| ENST00000301141.9:c.1108T>G | ENSP00000301141.4:p.Leu370Val | |
| ENST00000596719.5:n.959T>G | ||
| ENST00000601627.1:c.119+43932A>C | ||
| ENST00000610301.1:c.1108T>G | ENSP00000477899.1:p.Leu370Val | |
| NM_000762.5:c.1108T>G | NP_000753.3:p.Leu370Val | |
| NM_000762.6:c.1108T>G MANE Select | NP_000753.3:p.Leu370Val |