HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116778204C>T , CM000673.2:g.116778204C>T | GRCh38 |
NC_000011.9:g.116648920C>T , CM000673.1:g.116648920C>T | GRCh37 |
NC_000011.8:g.116154130C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000227322.8:c.*721G>A MANE Select | ENSP00000227322.3:n.*721G>A | |
ENST00000227322.7:c.*721G>A | ENSP00000227322.3:n.*721G>A | |
ENST00000429220.5:c.1880G>A | ||
ENST00000444935.5:c.2013G>A | ||
NM_001317086.1:c.*721G>A | NP_001304015.1:n.*721G>A | |
NM_003904.4:c.*721G>A | NP_003895.1:n.*721G>A | |
NM_003904.5:c.*721G>A MANE Select | NP_003895.1:n.*721G>A | |
NM_001317086.2:c.*721G>A | NP_001304015.1:n.*721G>A |