Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173229T>G , CM000678.2:g.173229T>G | GRCh38 |
| NC_000016.9:g.223228T>G , CM000678.1:g.223228T>G | GRCh37 |
| NC_000016.8:g.163228T>G | NCBI36 |
| NG_000006.1:g.34092T>G | |
| NG_059186.1:g.1579T>G | |
| NG_059271.1:g.5383T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.200T>G MANE Select | NP_000508.1:p.Leu67Arg |
| ENST00000251595.11:c.200T>G MANE Select | ENSP00000251595.6:p.Leu67Arg |
| NM_000517.4:c.200T>G | NP_000508.1:p.Leu67Arg |
| ENST00000251595.10:c.200T>G | ENSP00000251595.6:p.Leu67Arg |
| ENST00000397806.1:c.104T>G | ENSP00000380908.1:p.Leu35Arg |
| ENST00000482565.1:n.336T>G | |
| ENST00000484216.1:n.169T>G |