Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33075103A>T , CM000668.2:g.33075103A>T | GRCh38 |
| NC_000006.11:g.33042880A>T , CM000668.1:g.33042880A>T | GRCh37 |
| NC_000006.10:g.33150858A>T | NCBI36 |
| NG_033241.1:g.10676T>A | |
| NG_033242.1:g.4178A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417724.1:c.-140-1393T>A | ENSP00000398134.1:n.-140-1393T>A | |
| ENST00000419277.5:c.-99-1434T>A | ENSP00000393566.1:n.-99-1434T>A | |
| ENST00000453337.1:c.-202-1331T>A | ENSP00000390929.1:n.-202-1331T>A | |
| ENST00000476642.5:n.77-5217T>A | ||
| NM_001242524.1:c.-99-1434T>A | NP_001229453.1:n.-99-1434T>A | |
| NM_001242525.1:c.-23-1510T>A | NP_001229454.1:n.-23-1510T>A | |
| NM_001242524.2:c.-99-1434T>A | NP_001229453.1:n.-99-1434T>A | |
| NM_001242525.2:c.-23-1510T>A | NP_001229454.1:n.-23-1510T>A |