Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763351G>A , CM000673.2:g.763351G>A | GRCh38 |
| NC_000011.9:g.763351G>A , CM000673.1:g.763351G>A | GRCh37 |
| NC_000011.8:g.753351G>A | NCBI36 |
| NG_008160.1:g.20920G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.469G>A MANE Select | ENSP00000321259.3:p.Glu157Lys | |
| ENST00000319006.7:c.469G>A | ENSP00000321259.3:p.Glu157Lys | |
| ENST00000528070.5:c.*467G>A | ENSP00000435042.1:n.*467G>A | |
| ENST00000528097.5:c.469G>A | ENSP00000437098.1:p.Glu157Lys | |
| ENST00000530440.1:c.*128G>A | ENSP00000433501.1:n.*128G>A | |
| NM_006755.1:c.469G>A | NP_006746.1:p.Glu157Lys | |
| NM_006755.2:c.469G>A MANE Select | NP_006746.1:p.Glu157Lys |