Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173229T= , CM000678.2:g.173229T= | GRCh38 |
| NC_000016.9:g.223228T= , CM000678.1:g.223228T= | GRCh37 |
| NC_000016.8:g.163228T= | NCBI36 |
| NG_000006.1:g.34092T= | |
| NG_059186.1:g.1579T= | |
| NG_059271.1:g.5383T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.200T= MANE Select | NP_000508.1:p.Leu67= |
| ENST00000251595.11:c.200T= MANE Select | ENSP00000251595.6:p.Leu67= |
| NM_000517.4:c.200T= | NP_000508.1:p.Leu67= |
| ENST00000251595.10:c.200T= | ENSP00000251595.6:p.Leu67= |
| ENST00000397806.1:c.104T= | ENSP00000380908.1:p.Leu35= |
| ENST00000482565.1:n.336T= | |
| ENST00000484216.1:n.169T= |