Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431747G>C , CM000663.2:g.229431747G>C | GRCh38 |
| NC_000001.10:g.229567494G>C , CM000663.1:g.229567494G>C | GRCh37 |
| NC_000001.9:g.227634117G>C | NCBI36 |
| NG_006672.1:g.7350C>G , LRG_429:g.7350C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.964C>G | ENSP00000355644.4:p.Leu322Val | |
| ENST00000684723.1:c.829C>G | ENSP00000508084.1:p.Leu277Val | |
| ENST00000366683.3:c.595C>G | ENSP00000355644.3:p.Leu199Val | |
| ENST00000366684.7:c.964C>G MANE Select | ENSP00000355645.3:p.Leu322Val | |
| NM_001100.3:c.964C>G , LRG_429t1:c.964C>G | NP_001091.1:p.Leu322Val | |
| NM_001100.4:c.964C>G MANE Select | NP_001091.1:p.Leu322Val |