HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948944T>G , CM000679.2:g.16948944T>G | GRCh38 |
NC_000017.10:g.16852258T>G , CM000679.1:g.16852258T>G | GRCh37 |
NC_000017.9:g.16792983T>G | NCBI36 |
NG_007281.1:g.28145A>C , LRG_120:g.28145A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.239A>C MANE Select | ENSP00000261652.2:p.Asp80Ala | |
ENST00000261652.6:c.239A>C | ENSP00000261652.2:p.Asp80Ala | |
ENST00000579315.5:c.239A>C | ENSP00000464069.1:p.Asp80Ala | |
ENST00000581616.2:n.242A>C | ||
ENST00000582931.5:n.143A>C | ||
ENST00000583789.1:c.101A>C | ENSP00000462952.1:p.Asp34Ala | |
ENST00000584950.5:c.101A>C | ENSP00000463582.1:p.Asp34Ala | |
NM_012452.2:c.239A>C , LRG_120t1:c.239A>C | NP_036584.1:p.Asp80Ala | |
NM_012452.3:c.239A>C MANE Select | NP_036584.1:p.Asp80Ala |