HGVS | Genome Assembly |
---|---|
NC_000017.11:g.16948914G>T , CM000679.2:g.16948914G>T | GRCh38 |
NC_000017.10:g.16852228G>T , CM000679.1:g.16852228G>T | GRCh37 |
NC_000017.9:g.16792953G>T | NCBI36 |
NG_007281.1:g.28175C>A , LRG_120:g.28175C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261652.7:c.269C>A MANE Select | ENSP00000261652.2:p.Ala90Asp | |
ENST00000261652.6:c.269C>A | ENSP00000261652.2:p.Ala90Asp | |
ENST00000579315.5:c.269C>A | ENSP00000464069.1:p.Ala90Asp | |
ENST00000581616.2:n.272C>A | ||
ENST00000582931.5:n.173C>A | ||
ENST00000583789.1:c.131C>A | ENSP00000462952.1:p.Ala44Asp | |
ENST00000584950.5:c.131C>A | ENSP00000463582.1:p.Ala44Asp | |
NM_012452.2:c.269C>A , LRG_120t1:c.269C>A | NP_036584.1:p.Ala90Asp | |
NM_012452.3:c.269C>A MANE Select | NP_036584.1:p.Ala90Asp |