Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33075830T>C , CM000668.2:g.33075830T>C | GRCh38 |
| NC_000006.11:g.33043607T>C , CM000668.1:g.33043607T>C | GRCh37 |
| NC_000006.10:g.33151585T>C | NCBI36 |
| NG_033241.1:g.9949A>G | |
| NG_033242.1:g.4905T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417724.1:c.-140-2120A>G | ENSP00000398134.1:n.-140-2120A>G | |
| ENST00000419277.5:c.-99-2161A>G | ENSP00000393566.1:n.-99-2161A>G | |
| ENST00000453337.1:c.-202-2058A>G | ENSP00000390929.1:n.-202-2058A>G | |
| ENST00000476642.5:n.76+4850A>G | ||
| NM_001242524.1:c.-99-2161A>G | NP_001229453.1:n.-99-2161A>G | |
| NM_001242525.1:c.-23-2237A>G | NP_001229454.1:n.-23-2237A>G | |
| NM_001242524.2:c.-99-2161A>G | NP_001229453.1:n.-99-2161A>G | |
| NM_001242525.2:c.-23-2237A>G | NP_001229454.1:n.-23-2237A>G |