HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948926C>A , CM000679.2:g.16948926C>A | GRCh38 |
NC_000017.10:g.16852240C>A , CM000679.1:g.16852240C>A | GRCh37 |
NC_000017.9:g.16792965C>A | NCBI36 |
NG_007281.1:g.28163G>T , LRG_120:g.28163G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.257G>T MANE Select | ENSP00000261652.2:p.Cys86Phe | |
ENST00000261652.6:c.257G>T | ENSP00000261652.2:p.Cys86Phe | |
ENST00000579315.5:c.257G>T | ENSP00000464069.1:p.Cys86Phe | |
ENST00000581616.2:n.260G>T | ||
ENST00000582931.5:n.161G>T | ||
ENST00000583789.1:c.119G>T | ENSP00000462952.1:p.Cys40Phe | |
ENST00000584950.5:c.119G>T | ENSP00000463582.1:p.Cys40Phe | |
NM_012452.2:c.257G>T , LRG_120t1:c.257G>T | NP_036584.1:p.Cys86Phe | |
NM_012452.3:c.257G>T MANE Select | NP_036584.1:p.Cys86Phe |