HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78113779T>A , CM000685.2:g.78113779T>A | GRCh38 |
NC_000023.10:g.77369276T>A , CM000685.1:g.77369276T>A | GRCh37 |
NC_000023.9:g.77255932T>A | NCBI36 |
NG_008862.1:g.14611T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000373316.5:c.152T>A MANE Select | ENSP00000362413.4:p.Leu51Ter | |
ENST00000644362.1:c.68T>A | ENSP00000496140.1:p.Leu23Ter | |
ENST00000373316.4:c.152T>A | ENSP00000362413.4:p.Leu51Ter | |
ENST00000477335.5:n.288T>A | ||
ENST00000491291.1:n.144T>A | ||
NM_000291.3:c.152T>A | NP_000282.1:p.Leu51Ter | |
NM_000291.4:c.152T>A MANE Select | NP_000282.1:p.Leu51Ter |