Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58221728G>C , CM000682.2:g.58221728G>C | GRCh38 |
| NC_000020.10:g.56796784G>C , CM000682.1:g.56796784G>C | GRCh37 |
| NC_000020.9:g.56230190G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304369.2:c.562-225C>G MANE Select | NP_001291298.1:n.562-225C>G |
| ENST00000457363.2:c.562-225C>G MANE Select | ENSP00000396747.1:n.562-225C>G |
| NM_001304369.1:c.562-225C>G | NP_001291298.1:n.562-225C>G |
| ENST00000457363.1:c.562-225C>G | ENSP00000396747.1:n.562-225C>G |
| XM_011528572.1:c.124-225C>G | XP_011526874.1:n.124-225C>G |