HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115504G>T , CM000681.2:g.10115504G>T | GRCh38 |
NC_000019.9:g.10226180G>T , CM000681.1:g.10226180G>T | GRCh37 |
NC_000019.8:g.10087180G>T | NCBI36 |
NG_047007.1:g.8984G>T | |
NG_051197.1:g.9421C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.922C>A MANE Select | ENSP00000253108.3:p.Leu308Ile | |
ENST00000253108.8:c.922C>A | ENSP00000253108.3:p.Leu308Ile | |
ENST00000590158.1:n.941C>A | ||
ENST00000593054.5:c.316C>A | ENSP00000467187.1:p.Leu106Ile | |
NM_003755.3:c.922C>A | NP_003746.2:p.Leu308Ile | |
NM_003755.4:c.922C>A | NP_003746.2:p.Leu308Ile | |
NM_003755.5:c.922C>A MANE Select | NP_003746.2:p.Leu308Ile |