HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33075711T>A , CM000668.2:g.33075711T>A | GRCh38 |
NC_000006.11:g.33043488T>A , CM000668.1:g.33043488T>A | GRCh37 |
NC_000006.10:g.33151466T>A | NCBI36 |
NG_033241.1:g.10068A>T | |
NG_033242.1:g.4786T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000417724.1:c.-140-2001A>T | ENSP00000398134.1:n.-140-2001A>T | |
ENST00000419277.5:c.-99-2042A>T | ENSP00000393566.1:n.-99-2042A>T | |
ENST00000453337.1:c.-202-1939A>T | ENSP00000390929.1:n.-202-1939A>T | |
ENST00000476642.5:n.76+4969A>T | ||
NM_001242524.1:c.-99-2042A>T | NP_001229453.1:n.-99-2042A>T | |
NM_001242525.1:c.-23-2118A>T | NP_001229454.1:n.-23-2118A>T | |
NM_001242524.2:c.-99-2042A>T | NP_001229453.1:n.-99-2042A>T | |
NM_001242525.2:c.-23-2118A>T | NP_001229454.1:n.-23-2118A>T |