Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218781978C>A , CM000664.2:g.218781978C>A | GRCh38 |
| NC_000002.11:g.219646701C>A , CM000664.1:g.219646701C>A | GRCh37 |
| NC_000002.10:g.219354945C>A | NCBI36 |
| NG_007959.1:g.5230C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.3:c.-205C>A | NP_000775.1:n.-205C>A |
| ENST00000258415.8:c.-205C>A | ENSP00000258415.4:n.-205C>A |
| ENST00000494263.5:n.230C>A | |
| XM_017003488.2:c.-434C>A | XP_016858977.1:n.-434C>A |