Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90920243G>C , CM000672.2:g.90920243G>C | GRCh38 |
| NC_000010.10:g.92680000G>C , CM000672.1:g.92680000G>C | GRCh37 |
| NC_000010.9:g.92669980G>C | NCBI36 |
| NG_023227.1:g.6033C>G , LRG_379:g.6033C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371697.4:c.133C>G MANE Select | ENSP00000360762.3:p.Leu45Val | |
| ENST00000371697.3:c.133C>G | ENSP00000360762.3:p.Leu45Val | |
| NM_014391.2:c.133C>G , LRG_379t1:c.133C>G | NP_055206.2:p.Leu45Val | |
| NM_014391.3:c.133C>G MANE Select | NP_055206.2:p.Leu45Val |