HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609449C>A , CM000678.2:g.56609449C>A | GRCh38 |
NC_000016.9:g.56643361C>A , CM000678.1:g.56643361C>A | GRCh37 |
NC_000016.8:g.55200862C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245185.6:c.*95C>A MANE Select | ENSP00000245185.5:n.*95C>A | |
ENST00000245185.5:c.*95C>A | ENSP00000245185.5:n.*95C>A | |
ENST00000561491.1:c.*264C>A | ENSP00000456804.1:n.*264C>A | |
ENST00000562017.1:n.855C>A | ||
ENST00000563985.1:n.661C>A | ||
ENST00000567300.1:n.368C>A | ||
NM_005953.3:c.*95C>A | NP_005944.1:n.*95C>A | |
XR_933616.1:n.1041G>T | ||
NM_005953.4:c.*95C>A | NP_005944.1:n.*95C>A | |
NM_005953.5:c.*95C>A MANE Select | NP_005944.1:n.*95C>A |