Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173563C= , CM000678.2:g.173563C= | GRCh38 |
| NC_000016.9:g.223562C= , CM000678.1:g.223562C= | GRCh37 |
| NC_000016.8:g.163562C= | NCBI36 |
| NG_000006.1:g.34426C= | |
| NG_059186.1:g.1913C= | |
| NG_059271.1:g.5717C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.392C= MANE Select | NP_000508.1:p.Ala131= |
| ENST00000251595.11:c.392C= MANE Select | ENSP00000251595.6:p.Ala131= |
| NM_000517.4:c.392C= | NP_000508.1:p.Ala131= |
| ENST00000251595.10:c.392C= | ENSP00000251595.6:p.Ala131= |
| ENST00000397806.1:c.296C= | ENSP00000380908.1:p.Ala99= |
| ENST00000482565.1:n.528C= |