Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454383C= , CM000679.2:g.7454383C= | GRCh38 |
| NC_000017.10:g.7357702C= , CM000679.1:g.7357702C= | GRCh37 |
| NC_000017.9:g.7298426C= | NCBI36 |
| NG_008026.1:g.14297C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.907C= MANE Select | ENSP00000304290.2:p.Leu303= | |
| ENST00000306071.6:c.907C= | ENSP00000304290.2:p.Leu303= | |
| ENST00000536404.6:c.691C= | ENSP00000439209.2:p.Leu231= | |
| ENST00000570557.5:c.570C= | ||
| ENST00000573209.1:n.1851C= | ||
| ENST00000576360.1:c.605-61C= | ENSP00000459092.1:n.605-61C= | |
| NM_000747.2:c.907C= | NP_000738.2:p.Leu303= | |
| NM_000747.3:c.907C= MANE Select | NP_000738.2:p.Leu303= |