Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432148C>T , CM000663.2:g.229432148C>T | GRCh38 |
| NC_000001.10:g.229567895C>T , CM000663.1:g.229567895C>T | GRCh37 |
| NC_000001.9:g.227634518C>T | NCBI36 |
| NG_006672.1:g.6949G>A , LRG_429:g.6949G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.654G>A | ENSP00000355644.4:p.Leu218= | |
| ENST00000684723.1:c.519G>A | ENSP00000508084.1:p.Leu173= | |
| ENST00000366683.3:c.479+259G>A | ENSP00000355644.3:n.479+259G>A | |
| ENST00000366684.7:c.654G>A MANE Select | ENSP00000355645.3:p.Leu218= | |
| NM_001100.3:c.654G>A , LRG_429t1:c.654G>A | NP_001091.1:p.Leu218= | |
| NM_001100.4:c.654G>A MANE Select | NP_001091.1:p.Leu218= |