HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226648G>T , CM000673.2:g.5226648G>T | GRCh38 |
NC_000011.9:g.5247878G>T , CM000673.1:g.5247878G>T | GRCh37 |
NC_000011.8:g.5204454G>T | NCBI36 |
NG_000007.3:g.70968C>A | |
NG_059281.1:g.5424C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.244C>A | ENSP00000494175.1:p.Leu82Ile | |
ENST00000335295.4:c.244C>A MANE Select | ENSP00000333994.3:p.Leu82Ile | |
ENST00000380315.2:c.244C>A | ENSP00000369671.2:p.Leu82Ile | |
ENST00000475226.1:n.176C>A | ||
ENST00000485743.1:n.295C>A | ||
ENST00000633227.1:c.*60C>A | ENSP00000488004.1:n.*60C>A | |
NM_000518.4:c.244C>A | NP_000509.1:p.Leu82Ile | |
NM_000518.5:c.244C>A MANE Select | NP_000509.1:p.Leu82Ile |