Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598622C= , CM000680.2:g.31598622C= | GRCh38 |
| NC_000018.9:g.29178585C= , CM000680.1:g.29178585C= | GRCh37 |
| NC_000018.8:g.27432583C= | NCBI36 |
| NG_009490.1:g.11856C= , LRG_416:g.11856C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.391C= MANE Select | NP_000362.1:p.Leu131= |
| ENST00000237014.8:c.391C= MANE Select | ENSP00000237014.4:p.Leu131= |
| NM_000371.3:c.391C= , LRG_416t1:c.391C= | NP_000362.1:p.Leu131= |
| ENST00000237014.7:c.391C= | ENSP00000237014.3:p.Leu131= |
| ENST00000610404.4:c.505C= | ENSP00000477599.1:p.Leu169= |
| ENST00000610404.5:c.295C= | ENSP00000477599.2:p.Leu99= |
| ENST00000613781.1:c.376-9C= | ENSP00000479174.1:n.376-9C= |
| ENST00000649620.1:c.391C= | ENSP00000497927.1:p.Leu131= |