HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56595012A>T , CM000679.2:g.56595012A>T | GRCh38 |
NC_000017.10:g.54672373A>T , CM000679.1:g.54672373A>T | GRCh37 |
NC_000017.9:g.52027372A>T | NCBI36 |
NG_011958.1:g.6314A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.*90A>T MANE Select | ENSP00000328181.4:n.*90A>T | |
ENST00000332822.4:c.*90A>T | ENSP00000328181.4:n.*90A>T | |
NM_005450.4:c.*90A>T | NP_005441.1:n.*90A>T | |
NM_005450.6:c.*90A>T MANE Select | NP_005441.1:n.*90A>T |