HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37710547C>T , CM000684.2:g.37710547C>T | GRCh38 |
NC_000022.10:g.38106554C>T , CM000684.1:g.38106554C>T | GRCh37 |
NC_000022.9:g.36436500C>T | NCBI36 |
NG_012857.1:g.18560C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.235C>T MANE Select | ENSP00000496394.1:p.Leu79Phe | |
ENST00000344404.10:c.235C>T | ENSP00000340312.6:p.Leu79Phe | |
ENST00000406386.7:c.235C>T | ENSP00000384312.3:p.Leu79Phe | |
ENST00000455236.4:c.1192C>T | ENSP00000477208.1:n.1192C>T | |
ENST00000492485.5:n.371C>T | ||
NM_001039141.2:c.235C>T | NP_001034230.1:p.Leu79Phe | |
NM_001039141.3:c.235C>T MANE Select | NP_001034230.1:p.Leu79Phe |