HGVS | Genome Assembly |
---|---|
NC_000001.11:g.192811832T>A , CM000663.2:g.192811832T>A | GRCh38 |
NC_000001.10:g.192780962T>A , CM000663.1:g.192780962T>A | GRCh37 |
NC_000001.9:g.191047585T>A | NCBI36 |
NG_012800.1:g.7794T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000235382.7:c.*236T>A MANE Select | ENSP00000235382.5:n.*236T>A | |
ENST00000235382.6:c.*236T>A | ENSP00000235382.5:n.*236T>A | |
NM_002923.3:c.*236T>A | NP_002914.1:n.*236T>A | |
NM_002923.4:c.*236T>A MANE Select | NP_002914.1:n.*236T>A |