HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115526C>A , CM000681.2:g.10115526C>A | GRCh38 |
NC_000019.9:g.10226202C>A , CM000681.1:g.10226202C>A | GRCh37 |
NC_000019.8:g.10087202C>A | NCBI36 |
NG_047007.1:g.9006C>A | |
NG_051197.1:g.9399G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.900G>T MANE Select | ENSP00000253108.3:p.Val300= | |
ENST00000253108.8:c.900G>T | ENSP00000253108.3:p.Val300= | |
ENST00000590158.1:n.919G>T | ||
ENST00000593054.5:c.294G>T | ENSP00000467187.1:p.Val98= | |
NM_003755.3:c.900G>T | NP_003746.2:p.Val300= | |
NM_003755.4:c.900G>T | NP_003746.2:p.Val300= | |
NM_003755.5:c.900G>T MANE Select | NP_003746.2:p.Val300= |