Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173313A= , CM000678.2:g.173313A= | GRCh38 |
| NC_000016.9:g.223312A= , CM000678.1:g.223312A= | GRCh37 |
| NC_000016.8:g.163312A= | NCBI36 |
| NG_000006.1:g.34176A= | |
| NG_059186.1:g.1663A= | |
| NG_059271.1:g.5467A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.284A= MANE Select | ENSP00000251595.6:p.Asp95= | |
| ENST00000251595.10:c.284A= | ENSP00000251595.6:p.Asp95= | |
| ENST00000397806.1:c.188A= | ENSP00000380908.1:p.Asp63= | |
| ENST00000482565.1:n.420A= | ||
| ENST00000484216.1:n.253A= | ||
| NM_000517.4:c.284A= | NP_000508.1:p.Asp95= | |
| NM_000517.6:c.284A= MANE Select | NP_000508.1:p.Asp95= |