HGVS | Genome Assembly |
---|---|
NC_000010.11:g.92645452T>G , CM000672.2:g.92645452T>G | GRCh38 |
NC_000010.10:g.94405209T>G , CM000672.1:g.94405209T>G | GRCh37 |
NC_000010.9:g.94395189T>G | NCBI36 |
NG_032580.1:g.57385T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260731.5:c.2357T>G MANE Select | ENSP00000260731.3:p.Phe786Cys | |
ENST00000676621.1:c.*875T>G | ENSP00000503639.1:n.*875T>G | |
ENST00000676647.1:c.2150T>G | ENSP00000503394.1:p.Phe717Cys | |
ENST00000676757.1:c.2150T>G | ENSP00000504289.1:p.Phe717Cys | |
ENST00000677720.1:c.*331T>G | ENSP00000504840.1:n.*331T>G | |
ENST00000260731.4:c.2357T>G | ENSP00000260731.3:p.Phe786Cys | |
NM_004523.3:c.2357T>G | NP_004514.2:p.Phe786Cys | |
NM_004523.4:c.2357T>G MANE Select | NP_004514.2:p.Phe786Cys |