HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115545G>A , CM000681.2:g.10115545G>A | GRCh38 |
NC_000019.9:g.10226221G>A , CM000681.1:g.10226221G>A | GRCh37 |
NC_000019.8:g.10087221G>A | NCBI36 |
NG_047007.1:g.9025G>A | |
NG_051197.1:g.9380C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.881C>T MANE Select | ENSP00000253108.3:p.Ala294Val | |
ENST00000253108.8:c.881C>T | ENSP00000253108.3:p.Ala294Val | |
ENST00000589454.5:c.857C>T | ENSP00000466860.1:p.Ala286Val | |
ENST00000590158.1:n.900C>T | ||
ENST00000593054.5:c.275C>T | ENSP00000467187.1:p.Ala92Val | |
NM_003755.3:c.881C>T | NP_003746.2:p.Ala294Val | |
NM_003755.4:c.881C>T | NP_003746.2:p.Ala294Val | |
NM_003755.5:c.881C>T MANE Select | NP_003746.2:p.Ala294Val |