HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948944T>A , CM000679.2:g.16948944T>A | GRCh38 |
NC_000017.10:g.16852258T>A , CM000679.1:g.16852258T>A | GRCh37 |
NC_000017.9:g.16792983T>A | NCBI36 |
NG_007281.1:g.28145A>T , LRG_120:g.28145A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.239A>T MANE Select | ENSP00000261652.2:p.Asp80Val | |
ENST00000261652.6:c.239A>T | ENSP00000261652.2:p.Asp80Val | |
ENST00000579315.5:c.239A>T | ENSP00000464069.1:p.Asp80Val | |
ENST00000581616.2:n.242A>T | ||
ENST00000582931.5:n.143A>T | ||
ENST00000583789.1:c.101A>T | ENSP00000462952.1:p.Asp34Val | |
ENST00000584950.5:c.101A>T | ENSP00000463582.1:p.Asp34Val | |
NM_012452.2:c.239A>T , LRG_120t1:c.239A>T | NP_036584.1:p.Asp80Val | |
NM_012452.3:c.239A>T MANE Select | NP_036584.1:p.Asp80Val |