Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201313334C>A , CM000663.2:g.201313334C>A | GRCh38 |
| NC_000001.10:g.201282462C>A , CM000663.1:g.201282462C>A | GRCh37 |
| NC_000001.9:g.199549085C>A | NCBI36 |
| NG_023337.1:g.34883C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001005337.3:c.475C>A MANE Select | NP_001005337.1:p.Leu159Ile |
| ENST00000367324.8:c.475C>A MANE Select | ENSP00000356293.4:p.Leu159Ile |
| NM_000299.3:c.475C>A | NP_000290.2:p.Leu159Ile |
| NM_000299.4:c.475C>A | NP_000290.2:p.Leu159Ile |
| NM_001005337.2:c.475C>A | NP_001005337.1:p.Leu159Ile |
| ENST00000263946.7:c.475C>A | ENSP00000263946.3:p.Leu159Ile |
| ENST00000352845.3:c.475C>A | ENSP00000295597.3:p.Leu159Ile |
| ENST00000367324.7:c.475C>A | ENSP00000356293.3:p.Leu159Ile |
| ENST00000622031.4:c.475C>A | ENSP00000482213.1:p.Leu159Ile |