Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432348G>C , CM000663.2:g.229432348G>C | GRCh38 |
| NC_000001.10:g.229568095G>C , CM000663.1:g.229568095G>C | GRCh37 |
| NC_000001.9:g.227634718G>C | NCBI36 |
| NG_006672.1:g.6749C>G , LRG_429:g.6749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.538C>G | ENSP00000355644.4:p.Leu180Val | |
| ENST00000684723.1:c.403C>G | ENSP00000508084.1:p.Leu135Val | |
| ENST00000366683.3:c.479+59C>G | ENSP00000355644.3:n.479+59C>G | |
| ENST00000366684.7:c.538C>G MANE Select | ENSP00000355645.3:p.Leu180Val | |
| NM_001100.3:c.538C>G , LRG_429t1:c.538C>G | NP_001091.1:p.Leu180Val | |
| NM_001100.4:c.538C>G MANE Select | NP_001091.1:p.Leu180Val |