HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145581C>T , CM000668.2:g.24145581C>T | GRCh38 |
NC_000006.11:g.24145809C>T , CM000668.1:g.24145809C>T | GRCh37 |
NC_000006.10:g.24253788C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378491.9:c.223C>T MANE Select | ENSP00000367752.4:p.Leu75Phe | |
ENST00000378477.2:c.223C>T | ENSP00000367738.2:p.Leu75Phe | |
ENST00000378478.5:c.223C>T | ENSP00000367739.2:p.Leu75Phe | |
ENST00000378491.8:c.223C>T | ENSP00000367752.4:p.Leu75Phe | |
ENST00000468195.2:n.257-9190C>T | ||
NM_080723.4:c.223C>T | NP_542454.3:p.Leu75Phe | |
NM_080723.5:c.223C>T MANE Select | NP_542454.3:p.Leu75Phe |