HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313481T>A , CM000672.2:g.30313481T>A | GRCh38 |
NC_000010.10:g.30602410T>A , CM000672.1:g.30602410T>A | GRCh37 |
NC_000010.9:g.30642416T>A | NCBI36 |
NG_028096.1:g.40858A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263063.9:c.*128A>T MANE Select | ENSP00000263063.3:n.*128A>T | |
ENST00000263063.8:c.*128A>T | ENSP00000263063.3:n.*128A>T | |
ENST00000488290.5:n.3632A>T | ||
NM_018109.3:c.*128A>T | NP_060579.3:n.*128A>T | |
NM_018109.4:c.*128A>T MANE Select | NP_060579.3:n.*128A>T |