HGVS | Genome Assembly |
---|---|
NC_000004.12:g.24800297T>A , CM000666.2:g.24800297T>A | GRCh38 |
NC_000004.11:g.24801919T>A , CM000666.1:g.24801919T>A | GRCh37 |
NC_000004.10:g.24411017T>A | NCBI36 |
NG_012213.1:g.9835T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382120.4:c.*53T>A MANE Select | ENSP00000371554.3:n.*53T>A | |
ENST00000382120.3:c.*53T>A | ENSP00000371554.3:n.*53T>A | |
NM_003102.2:c.*53T>A | NP_003093.2:n.*53T>A | |
XR_427488.1:n.966T>A | ||
NM_003102.3:c.*53T>A | NP_003093.2:n.*53T>A | |
NM_003102.4:c.*53T>A MANE Select | NP_003093.2:n.*53T>A |