HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33075814C>A , CM000668.2:g.33075814C>A | GRCh38 |
NC_000006.11:g.33043591C>A , CM000668.1:g.33043591C>A | GRCh37 |
NC_000006.10:g.33151569C>A | NCBI36 |
NG_033241.1:g.9965G>T | |
NG_033242.1:g.4889C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000417724.1:c.-140-2104G>T | ENSP00000398134.1:n.-140-2104G>T | |
ENST00000419277.5:c.-99-2145G>T | ENSP00000393566.1:n.-99-2145G>T | |
ENST00000453337.1:c.-202-2042G>T | ENSP00000390929.1:n.-202-2042G>T | |
ENST00000476642.5:n.76+4866G>T | ||
NM_001242524.1:c.-99-2145G>T | NP_001229453.1:n.-99-2145G>T | |
NM_001242525.1:c.-23-2221G>T | NP_001229454.1:n.-23-2221G>T | |
NM_001242524.2:c.-99-2145G>T | NP_001229453.1:n.-99-2145G>T | |
NM_001242525.2:c.-23-2221G>T | NP_001229454.1:n.-23-2221G>T |