Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110575395T>G , CM000672.2:g.110575395T>G | GRCh38 |
| NC_000010.10:g.112335153T>G , CM000672.1:g.112335153T>G | GRCh37 |
| NC_000010.9:g.112325143T>G | NCBI36 |
| NG_012217.1:g.12705T>G , LRG_774:g.12705T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.323T>G | ||
| ENST00000687823.1:n.104T>G | ||
| ENST00000689932.1:n.2253T>G | ||
| ENST00000691297.1:n.323T>G | ||
| ENST00000691527.1:n.280T>G | ||
| ENST00000692792.1:n.309T>G | ||
| ENST00000361804.5:c.190T>G MANE Select | ENSP00000354720.5:p.Leu64Val | |
| ENST00000361804.4:c.190T>G | ENSP00000354720.4:p.Leu64Val | |
| ENST00000462899.1:n.336T>G | ||
| NM_005445.3:c.190T>G , LRG_774t1:c.190T>G | NP_005436.1:p.Leu64Val | |
| NM_005445.4:c.190T>G MANE Select | NP_005436.1:p.Leu64Val |