HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33068697T>C , CM000668.2:g.33068697T>C | GRCh38 |
NC_000006.11:g.33036474T>C , CM000668.1:g.33036474T>C | GRCh37 |
NC_000006.10:g.33144452T>C | NCBI36 |
NG_033241.1:g.17082A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000692443.1:c.736A>G MANE Select | ENSP00000509163.1:p.Lys246Glu | |
ENST00000419277.5:c.736A>G | ENSP00000393566.1:p.Lys246Glu | |
ENST00000437811.1:c.338A>G | ||
ENST00000479107.1:n.1335A>G | ||
NM_001242524.1:c.736A>G | NP_001229453.1:p.Lys246Glu | |
NM_001242525.1:c.736A>G | NP_001229454.1:p.Lys246Glu | |
NM_033554.3:c.736A>G | NP_291032.2:p.Lys246Glu | |
XM_011514559.1:c.628+322A>G | XP_011512861.1:n.628+322A>G | |
NM_001242524.2:c.736A>G | NP_001229453.1:p.Lys246Glu | |
NM_001242525.2:c.736A>G | NP_001229454.1:p.Lys246Glu |