Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31598571G>C , CM000680.2:g.31598571G>C | GRCh38 |
| NC_000018.9:g.29178534G>C , CM000680.1:g.29178534G>C | GRCh37 |
| NC_000018.8:g.27432532G>C | NCBI36 |
| NG_009490.1:g.11805G>C , LRG_416:g.11805G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000371.4:c.340G>C MANE Select | NP_000362.1:p.Val114Leu |
| ENST00000237014.8:c.340G>C MANE Select | ENSP00000237014.4:p.Val114Leu |
| NM_000371.3:c.340G>C , LRG_416t1:c.340G>C | NP_000362.1:p.Val114Leu |
| ENST00000237014.7:c.340G>C | ENSP00000237014.3:p.Val114Leu |
| ENST00000610404.4:c.454G>C | ENSP00000477599.1:p.Val152Leu |
| ENST00000610404.5:c.244G>C | ENSP00000477599.2:p.Val82Leu |
| ENST00000613781.1:c.340G>C | ENSP00000479174.1:p.Val114Leu |
| ENST00000649620.1:c.340G>C | ENSP00000497927.1:p.Val114Leu |