Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508273C>A , CM000685.2:g.83508273C>A | GRCh38 |
| NC_000023.10:g.82763281C>A , CM000685.1:g.82763281C>A | GRCh37 |
| NC_000023.9:g.82649937C>A | NCBI36 |
| NG_009936.2:g.5013C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373200.4:c.-52C>A | ENSP00000362296.2:n.-52C>A | |
| NM_000307.4:c.-52C>A | NP_000298.3:n.-52C>A |