Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56248749C>A , CM000682.2:g.56248749C>A | GRCh38 |
| NC_000020.10:g.54823805C>A , CM000682.1:g.54823805C>A | GRCh37 |
| NC_000020.9:g.54257212C>A | NCBI36 |
| NG_012200.1:g.5018C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019888.3:c.-95C>A MANE Select | NP_063941.3:n.-95C>A |
| ENST00000243911.2:c.-95C>A MANE Select | ENSP00000243911.2:n.-95C>A |