Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172922T>G , CM000678.2:g.172922T>G | GRCh38 |
| NC_000016.9:g.222921T>G , CM000678.1:g.222921T>G | GRCh37 |
| NC_000016.8:g.162921T>G | NCBI36 |
| NG_000006.1:g.33785T>G | |
| NG_059186.1:g.1272T>G | |
| NG_059271.1:g.5076T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.10T>G MANE Select | ENSP00000251595.6:p.Ser4Ala | |
| ENST00000251595.10:c.10T>G | ENSP00000251595.6:p.Ser4Ala | |
| ENST00000397806.1:c.-38T>G | ENSP00000380908.1:n.-38T>G | |
| ENST00000482565.1:n.29T>G | ||
| NM_000517.4:c.10T>G | NP_000508.1:p.Ser4Ala | |
| NM_000517.6:c.10T>G MANE Select | NP_000508.1:p.Ser4Ala |