Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373855C>G , CM000664.2:g.47373855C>G | GRCh38 |
| NC_000002.11:g.47600994C>G , CM000664.1:g.47600994C>G | GRCh37 |
| NC_000002.10:g.47454498C>G | NCBI36 |
| NG_012352.2:g.33693C>G , LRG_215:g.33693C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.232C>G MANE Select | NP_002345.2:p.Leu78Val |
| ENST00000263735.9:c.232C>G MANE Select | ENSP00000263735.4:p.Leu78Val |
| NM_002354.2:c.232C>G , LRG_215t1:c.232C>G | NP_002345.2:p.Leu78Val |
| ENST00000263735.8:c.232C>G | ENSP00000263735.4:p.Leu78Val |
| ENST00000405271.5:c.316C>G | ENSP00000385476.1:p.Leu106Val |
| ENST00000419334.1:c.460C>G | ENSP00000389028.1:p.Leu154Val |
| ENST00000456133.5:c.316C>G | ENSP00000410675.1:p.Leu106Val |
| ENST00000474691.1:n.500C>G | |
| ENST00000490733.1:n.81C>G |