Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10127790G>A , CM000679.2:g.10127790G>A | GRCh38 |
| NC_000017.10:g.10031107G>A , CM000679.1:g.10031107G>A | GRCh37 |
| NC_000017.9:g.9971832G>A | NCBI36 |
| NG_029502.1:g.75762C>T | |
| NG_029502.2:g.75762C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432992.7:c.183+70418C>T MANE Select | ENSP00000407552.2:n.183+70418C>T | |
| ENST00000432992.6:c.183+70418C>T | ENSP00000407552.2:n.183+70418C>T | |
| NM_201433.1:c.183+70418C>T | NP_958839.1:n.183+70418C>T | |
| NM_201433.2:c.183+70418C>T MANE Select | NP_958839.1:n.183+70418C>T |