HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33075802T>G , CM000668.2:g.33075802T>G | GRCh38 |
NC_000006.11:g.33043579T>G , CM000668.1:g.33043579T>G | GRCh37 |
NC_000006.10:g.33151557T>G | NCBI36 |
NG_033241.1:g.9977A>C | |
NG_033242.1:g.4877T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417724.1:c.-140-2092A>C | ENSP00000398134.1:n.-140-2092A>C | |
ENST00000419277.5:c.-99-2133A>C | ENSP00000393566.1:n.-99-2133A>C | |
ENST00000453337.1:c.-202-2030A>C | ENSP00000390929.1:n.-202-2030A>C | |
ENST00000476642.5:n.76+4878A>C | ||
NM_001242524.1:c.-99-2133A>C | NP_001229453.1:n.-99-2133A>C | |
NM_001242525.1:c.-23-2209A>C | NP_001229454.1:n.-23-2209A>C | |
NM_001242524.2:c.-99-2133A>C | NP_001229453.1:n.-99-2133A>C | |
NM_001242525.2:c.-23-2209A>C | NP_001229454.1:n.-23-2209A>C |