HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218782399T>G , CM000664.2:g.218782399T>G | GRCh38 |
NC_000002.11:g.219647122T>G , CM000664.1:g.219647122T>G | GRCh37 |
NC_000002.10:g.219355366T>G | NCBI36 |
NG_007959.1:g.5651T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258415.9:c.217T>G MANE Select | ENSP00000258415.4:p.Phe73Val | |
ENST00000258415.8:c.217T>G | ENSP00000258415.4:p.Phe73Val | |
ENST00000445971.1:c.217T>G | ENSP00000404945.1:p.Phe73Val | |
ENST00000466602.1:n.226T>G | ||
ENST00000494263.5:n.651T>G | ||
NM_000784.3:c.217T>G | NP_000775.1:p.Phe73Val | |
XM_017003488.2:c.-13T>G | XP_016858977.1:n.-13T>G | |
NM_000784.4:c.217T>G MANE Select | NP_000775.1:p.Phe73Val |