Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999232C>A , CM000663.2:g.54999232C>A | GRCh38 |
| NC_000001.10:g.55464905C>A , CM000663.1:g.55464905C>A | GRCh37 |
| NC_000001.9:g.55237493C>A | NCBI36 |
| NG_008965.1:g.5289C>A | |
| NG_008965.2:g.5300C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.46C>A MANE Select | ENSP00000498282.1:p.Leu16Ile | |
| ENST00000371265.4:c.46C>A | ENSP00000360312.4:p.Leu16Ile | |
| NM_057176.2:c.46C>A | NP_476517.1:p.Leu16Ile | |
| NM_057176.3:c.46C>A MANE Select | NP_476517.1:p.Leu16Ile |