Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7455317C= , CM000679.2:g.7455317C= | GRCh38 |
| NC_000017.10:g.7358636C= , CM000679.1:g.7358636C= | GRCh37 |
| NC_000017.9:g.7299360C= | NCBI36 |
| NG_008026.1:g.15231C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.1078C= MANE Select | ENSP00000304290.2:p.Leu360= | |
| ENST00000306071.6:c.1078C= | ENSP00000304290.2:p.Leu360= | |
| ENST00000536404.6:c.862C= | ENSP00000439209.2:p.Leu288= | |
| ENST00000570557.5:c.741C= | ||
| ENST00000573209.1:n.2022C= | ||
| ENST00000576360.1:c.715C= | ENSP00000459092.1:p.Leu239= | |
| NM_000747.2:c.1078C= | NP_000738.2:p.Leu360= | |
| NM_000747.3:c.1078C= MANE Select | NP_000738.2:p.Leu360= |