Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172982G>A , CM000678.2:g.172982G>A | GRCh38 |
| NC_000016.9:g.222981G>A , CM000678.1:g.222981G>A | GRCh37 |
| NC_000016.8:g.162981G>A | NCBI36 |
| NG_000006.1:g.33845G>A | |
| NG_059186.1:g.1332G>A | |
| NG_059271.1:g.5136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.70G>A MANE Select | ENSP00000251595.6:p.Glu24Lys | |
| ENST00000251595.10:c.70G>A | ENSP00000251595.6:p.Glu24Lys | |
| ENST00000397806.1:c.-2+24G>A | ENSP00000380908.1:n.-2+24G>A | |
| ENST00000482565.1:n.89G>A | ||
| ENST00000484216.1:n.39G>A | ||
| NM_000517.4:c.70G>A | NP_000508.1:p.Glu24Lys | |
| NM_000517.6:c.70G>A MANE Select | NP_000508.1:p.Glu24Lys |