HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33075673T>G , CM000668.2:g.33075673T>G | GRCh38 |
NC_000006.11:g.33043450T>G , CM000668.1:g.33043450T>G | GRCh37 |
NC_000006.10:g.33151428T>G | NCBI36 |
NG_033241.1:g.10106A>C | |
NG_033242.1:g.4748T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000417724.1:c.-140-1963A>C | ENSP00000398134.1:n.-140-1963A>C | |
ENST00000419277.5:c.-99-2004A>C | ENSP00000393566.1:n.-99-2004A>C | |
ENST00000453337.1:c.-202-1901A>C | ENSP00000390929.1:n.-202-1901A>C | |
ENST00000476642.5:n.76+5007A>C | ||
NM_001242524.1:c.-99-2004A>C | NP_001229453.1:n.-99-2004A>C | |
NM_001242525.1:c.-23-2080A>C | NP_001229454.1:n.-23-2080A>C | |
NM_001242524.2:c.-99-2004A>C | NP_001229453.1:n.-99-2004A>C | |
NM_001242525.2:c.-23-2080A>C | NP_001229454.1:n.-23-2080A>C |