Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10663954G>A , CM000682.2:g.10663954G>A | GRCh38 |
| NC_000020.10:g.10644602G>A , CM000682.1:g.10644602G>A | GRCh37 |
| NC_000020.9:g.10592602G>A | NCBI36 |
| NG_007496.1:g.15093C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.439+9C>T MANE Select | NP_000205.1:n.439+9C>T |
| ENST00000254958.10:c.439+9C>T MANE Select | ENSP00000254958.4:n.439+9C>T |
| NM_000214.2:c.439+9C>T | NP_000205.1:n.439+9C>T |
| ENST00000254958.9:c.439+9C>T | ENSP00000254958.4:n.439+9C>T |
| XR_937258.1:n.3C>T |