Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038414C= , CM000668.2:g.32038414C= | GRCh38 |
| NC_000006.11:g.32006191C= , CM000668.1:g.32006191C= | GRCh37 |
| NC_000006.10:g.32114170C= | NCBI36 |
| NG_007941.2:g.5110C= | |
| NG_007941.3:g.5110C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-9C= | ENSP00000408860.2:n.-9C= | |
| ENST00000466779.5:c.-9C= | ENSP00000417321.1:n.-9C= | |
| ENST00000478281.5:c.-9C= | ENSP00000419572.1:n.-9C= | |
| ENST00000479074.5:n.50C= | ||
| ENST00000479730.5:n.50C= | ||
| ENST00000480027.1:n.45C= | ||
| ENST00000483041.5:n.45C= | ||
| ENST00000486063.5:n.75C= | ||
| NM_000500.7:c.-9C= | NP_000491.4:n.-9C= | |
| NM_001128590.3:c.-9C= | NP_001122062.3:n.-9C= | |
| XM_011514314.1:c.-433C= | XP_011512616.1:n.-433C= | |
| NM_001368143.1:c.-433C= | NP_001355072.1:n.-433C= | |
| NM_001368144.1:c.-343C= | NP_001355073.1:n.-343C= |