Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377020T>A , CM000664.2:g.47377020T>A | GRCh38 |
| NC_000002.11:g.47604159T>A , CM000664.1:g.47604159T>A | GRCh37 |
| NC_000002.10:g.47457663T>A | NCBI36 |
| NG_012352.2:g.36858T>A , LRG_215:g.36858T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.498T>A MANE Select | ENSP00000263735.4:p.Leu166= | |
| ENST00000263735.8:c.498T>A | ENSP00000263735.4:p.Leu166= | |
| ENST00000405271.5:c.582T>A | ENSP00000385476.1:p.Leu194= | |
| ENST00000456133.5:c.582T>A | ENSP00000410675.1:p.Leu194= | |
| ENST00000490733.1:n.347T>A | ||
| NM_002354.2:c.498T>A , LRG_215t1:c.498T>A | NP_002345.2:p.Leu166= | |
| NM_002354.3:c.498T>A MANE Select | NP_002345.2:p.Leu166= |