Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173500T= , CM000678.2:g.173500T= | GRCh38 |
| NC_000016.9:g.223499T= , CM000678.1:g.223499T= | GRCh37 |
| NC_000016.8:g.163499T= | NCBI36 |
| NG_000006.1:g.34363T= | |
| NG_059186.1:g.1850T= | |
| NG_059271.1:g.5654T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.329T= MANE Select | ENSP00000251595.6:p.Leu110= | |
| ENST00000251595.10:c.329T= | ENSP00000251595.6:p.Leu110= | |
| ENST00000397806.1:c.233T= | ENSP00000380908.1:p.Leu78= | |
| ENST00000482565.1:n.465T= | ||
| NM_000517.4:c.329T= | NP_000508.1:p.Leu110= | |
| NM_000517.6:c.329T= MANE Select | NP_000508.1:p.Leu110= |