Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172961A>G , CM000678.2:g.172961A>G | GRCh38 |
| NC_000016.9:g.222960A>G , CM000678.1:g.222960A>G | GRCh37 |
| NC_000016.8:g.162960A>G | NCBI36 |
| NG_000006.1:g.33824A>G | |
| NG_059186.1:g.1311A>G | |
| NG_059271.1:g.5115A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.49A>G MANE Select | NP_000508.1:p.Lys17Glu |
| ENST00000251595.11:c.49A>G MANE Select | ENSP00000251595.6:p.Lys17Glu |
| NM_000517.4:c.49A>G | NP_000508.1:p.Lys17Glu |
| ENST00000251595.10:c.49A>G | ENSP00000251595.6:p.Lys17Glu |
| ENST00000397806.1:c.-2+3A>G | ENSP00000380908.1:n.-2+3A>G |
| ENST00000482565.1:n.68A>G | |
| ENST00000484216.1:n.18A>G |