Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218270454G>A , CM000664.2:g.218270454G>A | GRCh38 |
| NC_000002.11:g.219135177G>A , CM000664.1:g.219135177G>A | GRCh37 |
| NC_000002.10:g.218843421G>A | NCBI36 |
| NG_017060.1:g.5063G>A | |
| NG_033036.1:g.4717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691799.1:n.70+734G>A | ||
| ENST00000248451.7:c.-82G>A | ENSP00000248451.3:n.-82G>A | |
| NM_001077399.2:c.-82G>A | NP_001070867.1:n.-82G>A | |
| NM_015488.4:c.-82G>A | NP_056303.3:n.-82G>A |