Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173520G>A , CM000678.2:g.173520G>A | GRCh38 |
| NC_000016.9:g.223519G>A , CM000678.1:g.223519G>A | GRCh37 |
| NC_000016.8:g.163519G>A | NCBI36 |
| NG_000006.1:g.34383G>A | |
| NG_059186.1:g.1870G>A | |
| NG_059271.1:g.5674G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.349G>A MANE Select | NP_000508.1:p.Glu117Lys |
| ENST00000251595.11:c.349G>A MANE Select | ENSP00000251595.6:p.Glu117Lys |
| NM_000517.4:c.349G>A | NP_000508.1:p.Glu117Lys |
| ENST00000251595.10:c.349G>A | ENSP00000251595.6:p.Glu117Lys |
| ENST00000397806.1:c.253G>A | ENSP00000380908.1:p.Glu85Lys |
| ENST00000482565.1:n.485G>A |