Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173253A= , CM000678.2:g.173253A= | GRCh38 |
| NC_000016.9:g.223252A= , CM000678.1:g.223252A= | GRCh37 |
| NC_000016.8:g.163252A= | NCBI36 |
| NG_000006.1:g.34116A= | |
| NG_059186.1:g.1603A= | |
| NG_059271.1:g.5407A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.224A= MANE Select | ENSP00000251595.6:p.Asp75= | |
| ENST00000251595.10:c.224A= | ENSP00000251595.6:p.Asp75= | |
| ENST00000397806.1:c.128A= | ENSP00000380908.1:p.Asp43= | |
| ENST00000482565.1:n.360A= | ||
| ENST00000484216.1:n.193A= | ||
| NM_000517.4:c.224A= | NP_000508.1:p.Asp75= | |
| NM_000517.6:c.224A= MANE Select | NP_000508.1:p.Asp75= |