Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173003G= , CM000678.2:g.173003G= | GRCh38 |
| NC_000016.9:g.223002G= , CM000678.1:g.223002G= | GRCh37 |
| NC_000016.8:g.163002G= | NCBI36 |
| NG_000006.1:g.33866G= | |
| NG_059186.1:g.1353G= | |
| NG_059271.1:g.5157G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.91G= MANE Select | NP_000508.1:p.Glu31= |
| ENST00000251595.11:c.91G= MANE Select | ENSP00000251595.6:p.Glu31= |
| NM_000517.4:c.91G= | NP_000508.1:p.Glu31= |
| ENST00000251595.10:c.91G= | ENSP00000251595.6:p.Glu31= |
| ENST00000397806.1:c.-2+45G= | ENSP00000380908.1:n.-2+45G= |
| ENST00000482565.1:n.110G= | |
| ENST00000484216.1:n.60G= |