HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609431G>A , CM000678.2:g.56609431G>A | GRCh38 |
NC_000016.9:g.56643343G>A , CM000678.1:g.56643343G>A | GRCh37 |
NC_000016.8:g.55200844G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000245185.6:c.*77G>A MANE Select | ENSP00000245185.5:n.*77G>A | |
ENST00000245185.5:c.*77G>A | ENSP00000245185.5:n.*77G>A | |
ENST00000561491.1:c.*246G>A | ENSP00000456804.1:n.*246G>A | |
ENST00000562017.1:n.837G>A | ||
ENST00000563985.1:n.643G>A | ||
ENST00000567300.1:n.350G>A | ||
NM_005953.3:c.*77G>A | NP_005944.1:n.*77G>A | |
XR_933616.1:n.1059C>T | ||
NM_005953.4:c.*77G>A | NP_005944.1:n.*77G>A | |
NM_005953.5:c.*77G>A MANE Select | NP_005944.1:n.*77G>A |