Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173000C>G , CM000678.2:g.173000C>G | GRCh38 |
| NC_000016.9:g.222999C>G , CM000678.1:g.222999C>G | GRCh37 |
| NC_000016.8:g.162999C>G | NCBI36 |
| NG_000006.1:g.33863C>G | |
| NG_059186.1:g.1350C>G | |
| NG_059271.1:g.5154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.88C>G MANE Select | ENSP00000251595.6:p.Leu30Val | |
| ENST00000251595.10:c.88C>G | ENSP00000251595.6:p.Leu30Val | |
| ENST00000397806.1:c.-2+42C>G | ENSP00000380908.1:n.-2+42C>G | |
| ENST00000482565.1:n.107C>G | ||
| ENST00000484216.1:n.57C>G | ||
| NM_000517.4:c.88C>G | NP_000508.1:p.Leu30Val | |
| NM_000517.6:c.88C>G MANE Select | NP_000508.1:p.Leu30Val |