HGVS | Genome Assembly |
---|---|
NC_000015.10:g.40931598C= , CM000677.2:g.40931598C= | GRCh38 |
NC_000015.9:g.41223796C= , CM000677.1:g.41223796C= | GRCh37 |
NC_000015.8:g.39011088C= | NCBI36 |
NG_046974.1:g.7266C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249749.7:c.490C= MANE Select | ENSP00000249749.5:p.Leu164= | |
ENST00000249749.6:c.490C= | ENSP00000249749.5:p.Leu164= | |
ENST00000559440.1:n.719C= | ||
NM_019074.3:c.490C= | NP_061947.1:p.Leu164= | |
NM_019074.4:c.490C= MANE Select | NP_061947.1:p.Leu164= |