HGVS | Genome Assembly |
---|---|
NC_000011.10:g.55811586A>C , CM000673.2:g.55811586A>C | GRCh38 |
NC_000011.9:g.55579062A>C , CM000673.1:g.55579062A>C | GRCh37 |
NC_000011.8:g.55335638A>C | NCBI36 |
NG_052620.1:g.5220A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000625203.2:c.120A>C MANE Select | ENSP00000485319.1:p.Leu40Phe | |
ENST00000333973.3:c.120A>C | ENSP00000335529.2:p.Leu40Phe | |
ENST00000623450.1:c.120A>C | ENSP00000485509.1:p.Leu40Phe | |
ENST00000625203.1:c.120A>C | ENSP00000485319.1:p.Leu40Phe | |
NM_001004738.1:c.120A>C | NP_001004738.1:p.Leu40Phe | |
NM_001004738.2:c.120A>C MANE Select | NP_001004738.1:p.Leu40Phe |