HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226625C>T , CM000673.2:g.5226625C>T | GRCh38 |
NC_000011.9:g.5247855C>T , CM000673.1:g.5247855C>T | GRCh37 |
NC_000011.8:g.5204431C>T | NCBI36 |
NG_000007.3:g.70991G>A | |
NG_059281.1:g.5447G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.267G>A | ENSP00000494175.1:p.Leu89= | |
ENST00000335295.4:c.267G>A MANE Select | ENSP00000333994.3:p.Leu89= | |
ENST00000380315.2:c.267G>A | ENSP00000369671.2:p.Leu89= | |
ENST00000475226.1:n.199G>A | ||
ENST00000485743.1:n.318G>A | ||
ENST00000633227.1:c.*83G>A | ENSP00000488004.1:n.*83G>A | |
NM_000518.4:c.267G>A | NP_000509.1:p.Leu89= | |
NM_000518.5:c.267G>A MANE Select | NP_000509.1:p.Leu89= |