HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186539503G>A , CM000665.2:g.186539503G>A | GRCh38 |
NC_000003.11:g.186257292G>A , CM000665.1:g.186257292G>A | GRCh37 |
NC_000003.10:g.187739986G>A | NCBI36 |
NG_009829.1:g.9876C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307944.6:c.116C>T MANE Select | ENSP00000312099.5:p.Ser39Phe | |
ENST00000307944.5:c.116C>T | ENSP00000312099.5:p.Ser39Phe | |
ENST00000392499.6:c.116C>T | ENSP00000376287.2:p.Ser39Phe | |
ENST00000460288.1:n.1018C>T | ||
NM_017541.2:c.116C>T | NP_060011.1:p.Ser39Phe | |
NM_017541.3:c.116C>T | NP_060011.1:p.Ser39Phe | |
NM_017541.4:c.116C>T MANE Select | NP_060011.1:p.Ser39Phe |