Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17642198C>A , CM000673.2:g.17642198C>A | GRCh38 |
| NC_000011.9:g.17663745C>A , CM000673.1:g.17663745C>A | GRCh37 |
| NC_000011.8:g.17620321C>A | NCBI36 |
| NG_033191.1:g.99826C>A | |
| NG_033191.2:g.99826C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.8403C>A | ENSP00000382323.2:p.Val2801= | |
| ENST00000399397.6:c.8367C>A MANE Select | ENSP00000382329.2:p.Val2789= | |
| ENST00000399391.6:c.8403C>A | ENSP00000382323.2:p.Val2801= | |
| ENST00000399397.5:c.8367C>A | ENSP00000382329.2:p.Val2789= | |
| NM_001277269.1:c.8403C>A | NP_001264198.1:p.Val2801= | |
| NM_001292063.1:c.8367C>A | NP_001278992.1:p.Val2789= | |
| NM_001277269.2:c.8403C>A | NP_001264198.1:p.Val2801= | |
| NM_001292063.2:c.8367C>A MANE Select | NP_001278992.1:p.Val2789= |