HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33075789C>T , CM000668.2:g.33075789C>T | GRCh38 |
NC_000006.11:g.33043566C>T , CM000668.1:g.33043566C>T | GRCh37 |
NC_000006.10:g.33151544C>T | NCBI36 |
NG_033241.1:g.9990G>A | |
NG_033242.1:g.4864C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000417724.1:c.-140-2079G>A | ENSP00000398134.1:n.-140-2079G>A | |
ENST00000419277.5:c.-99-2120G>A | ENSP00000393566.1:n.-99-2120G>A | |
ENST00000453337.1:c.-202-2017G>A | ENSP00000390929.1:n.-202-2017G>A | |
ENST00000476642.5:n.76+4891G>A | ||
NM_001242524.1:c.-99-2120G>A | NP_001229453.1:n.-99-2120G>A | |
NM_001242525.1:c.-23-2196G>A | NP_001229454.1:n.-23-2196G>A | |
NM_001242524.2:c.-99-2120G>A | NP_001229453.1:n.-99-2120G>A | |
NM_001242525.2:c.-23-2196G>A | NP_001229454.1:n.-23-2196G>A |