Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32038343A>C , CM000668.2:g.32038343A>C | GRCh38 |
| NC_000006.11:g.32006120A>C , CM000668.1:g.32006120A>C | GRCh37 |
| NC_000006.10:g.32114099A>C | NCBI36 |
| NG_007941.2:g.5039A>C | |
| NG_007941.3:g.5039A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418967.6:c.-80A>C | ENSP00000408860.2:n.-80A>C | |
| ENST00000466779.5:c.-80A>C | ENSP00000417321.1:n.-80A>C | |
| ENST00000486063.5:n.4A>C | ||
| NM_000500.7:c.-80A>C | NP_000491.4:n.-80A>C | |
| NM_001128590.3:c.-80A>C | NP_001122062.3:n.-80A>C | |
| NM_001368143.1:c.-504A>C | NP_001355072.1:n.-504A>C | |
| NM_001368144.1:c.-414A>C | NP_001355073.1:n.-414A>C |