HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24145635T>C , CM000668.2:g.24145635T>C | GRCh38 |
NC_000006.11:g.24145863T>C , CM000668.1:g.24145863T>C | GRCh37 |
NC_000006.10:g.24253842T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378491.9:c.277T>C MANE Select | ENSP00000367752.4:p.Phe93Leu | |
ENST00000378477.2:c.277T>C | ENSP00000367738.2:p.Phe93Leu | |
ENST00000378478.5:c.277T>C | ENSP00000367739.2:p.Phe93Leu | |
ENST00000378491.8:c.277T>C | ENSP00000367752.4:p.Phe93Leu | |
ENST00000468195.2:n.257-9136T>C | ||
NM_080723.4:c.277T>C | NP_542454.3:p.Phe93Leu | |
NM_080723.5:c.277T>C MANE Select | NP_542454.3:p.Phe93Leu |