Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038373G= , CM000668.2:g.32038373G= | GRCh38 |
| NC_000006.11:g.32006150G= , CM000668.1:g.32006150G= | GRCh37 |
| NC_000006.10:g.32114129G= | NCBI36 |
| NG_007941.2:g.5069G= | |
| NG_007941.3:g.5069G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-50G= | ENSP00000408860.2:n.-50G= | |
| ENST00000466779.5:c.-50G= | ENSP00000417321.1:n.-50G= | |
| ENST00000479074.5:n.9G= | ||
| ENST00000479730.5:n.9G= | ||
| ENST00000480027.1:n.4G= | ||
| ENST00000483041.5:n.4G= | ||
| ENST00000486063.5:n.34G= | ||
| NM_000500.7:c.-50G= | NP_000491.4:n.-50G= | |
| NM_001128590.3:c.-50G= | NP_001122062.3:n.-50G= | |
| XM_011514314.1:c.-474G= | XP_011512616.1:n.-474G= | |
| NM_001368143.1:c.-474G= | NP_001355072.1:n.-474G= | |
| NM_001368144.1:c.-384G= | NP_001355073.1:n.-384G= |