HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133532186C>T , CM000672.2:g.133532186C>T | GRCh38 |
NC_000010.10:g.135345690C>T , CM000672.1:g.135345690C>T | GRCh37 |
NC_000010.9:g.135195680C>T | NCBI36 |
NG_008383.1:g.9824C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000252945.8:c.550C>T MANE Select | ENSP00000252945.3:p.Leu184Phe | |
ENST00000252945.7:c.550C>T | ENSP00000252945.3:p.Leu184Phe | |
ENST00000368520.1:n.611C>T | ||
ENST00000418356.1:c.139C>T | ENSP00000397299.1:p.Leu47Phe | |
ENST00000421586.5:c.289C>T | ENSP00000412754.1:p.Leu97Phe | |
ENST00000463117.6:c.550C>T | ENSP00000440689.1:p.Leu184Phe | |
ENST00000477500.5:n.448+452C>T | ||
ENST00000541080.5:c.226+452C>T | ||
NM_000773.3:c.550C>T | NP_000764.1:p.Leu184Phe | |
NM_000773.4:c.550C>T MANE Select | NP_000764.1:p.Leu184Phe |