HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33075652G>T , CM000668.2:g.33075652G>T | GRCh38 |
NC_000006.11:g.33043429G>T , CM000668.1:g.33043429G>T | GRCh37 |
NC_000006.10:g.33151407G>T | NCBI36 |
NG_033241.1:g.10127C>A | |
NG_033242.1:g.4727G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000417724.1:c.-140-1942C>A | ENSP00000398134.1:n.-140-1942C>A | |
ENST00000419277.5:c.-99-1983C>A | ENSP00000393566.1:n.-99-1983C>A | |
ENST00000453337.1:c.-202-1880C>A | ENSP00000390929.1:n.-202-1880C>A | |
ENST00000476642.5:n.76+5028C>A | ||
NM_001242524.1:c.-99-1983C>A | NP_001229453.1:n.-99-1983C>A | |
NM_001242525.1:c.-23-2059C>A | NP_001229454.1:n.-23-2059C>A | |
NM_001242524.2:c.-99-1983C>A | NP_001229453.1:n.-99-1983C>A | |
NM_001242525.2:c.-23-2059C>A | NP_001229454.1:n.-23-2059C>A |