HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65964403T>A , CM000674.2:g.65964403T>A | GRCh38 |
NC_000012.11:g.66358183T>A , CM000674.1:g.66358183T>A | GRCh37 |
NC_000012.10:g.64644450T>A | NCBI36 |
NG_016296.1:g.144944T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000403681.7:c.*1111T>A MANE Select | ENSP00000384026.2:n.*1111T>A | |
ENST00000403681.6:c.*1111T>A | ENSP00000384026.2:n.*1111T>A | |
NM_003483.4:c.*1111T>A | NP_003474.1:n.*1111T>A | |
NM_003483.6:c.*1111T>A MANE Select | NP_003474.1:n.*1111T>A |