HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594949G>A , CM000679.2:g.56594949G>A | GRCh38 |
NC_000017.10:g.54672310G>A , CM000679.1:g.54672310G>A | GRCh37 |
NC_000017.9:g.52027309G>A | NCBI36 |
NG_011958.1:g.6251G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000332822.6:c.*27G>A MANE Select | ENSP00000328181.4:n.*27G>A | |
ENST00000332822.4:c.*27G>A | ENSP00000328181.4:n.*27G>A | |
NM_005450.4:c.*27G>A | NP_005441.1:n.*27G>A | |
NM_005450.6:c.*27G>A MANE Select | NP_005441.1:n.*27G>A |