Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598622C>A , CM000680.2:g.31598622C>A | GRCh38 |
| NC_000018.9:g.29178585C>A , CM000680.1:g.29178585C>A | GRCh37 |
| NC_000018.8:g.27432583C>A | NCBI36 |
| NG_009490.1:g.11856C>A , LRG_416:g.11856C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237014.8:c.391C>A MANE Select | ENSP00000237014.4:p.Leu131Met | |
| ENST00000610404.5:c.295C>A | ENSP00000477599.2:p.Leu99Met | |
| ENST00000649620.1:c.391C>A | ENSP00000497927.1:p.Leu131Met | |
| ENST00000237014.7:c.391C>A | ENSP00000237014.3:p.Leu131Met | |
| ENST00000610404.4:c.505C>A | ENSP00000477599.1:p.Leu169Met | |
| ENST00000613781.1:c.376-9C>A | ENSP00000479174.1:n.376-9C>A | |
| NM_000371.3:c.391C>A , LRG_416t1:c.391C>A | NP_000362.1:p.Leu131Met | |
| NM_000371.4:c.391C>A MANE Select | NP_000362.1:p.Leu131Met |