Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454398A>C , CM000679.2:g.7454398A>C | GRCh38 |
| NC_000017.10:g.7357717A>C , CM000679.1:g.7357717A>C | GRCh37 |
| NC_000017.9:g.7298441A>C | NCBI36 |
| NG_008026.1:g.14312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.922A>C MANE Select | ENSP00000304290.2:p.Ile308Leu | |
| ENST00000306071.6:c.922A>C | ENSP00000304290.2:p.Ile308Leu | |
| ENST00000536404.6:c.706A>C | ENSP00000439209.2:p.Ile236Leu | |
| ENST00000570557.5:c.585A>C | ||
| ENST00000573209.1:n.1866A>C | ||
| ENST00000576360.1:c.605-46A>C | ENSP00000459092.1:n.605-46A>C | |
| NM_000747.2:c.922A>C | NP_000738.2:p.Ile308Leu | |
| NM_000747.3:c.922A>C MANE Select | NP_000738.2:p.Ile308Leu |