HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78113799G>A , CM000685.2:g.78113799G>A | GRCh38 |
NC_000023.10:g.77369296G>A , CM000685.1:g.77369296G>A | GRCh37 |
NC_000023.9:g.77255952G>A | NCBI36 |
NG_008862.1:g.14631G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000373316.5:c.172G>A MANE Select | ENSP00000362413.4:p.Val58Ile | |
ENST00000644362.1:c.88G>A | ENSP00000496140.1:p.Val30Ile | |
ENST00000373316.4:c.172G>A | ENSP00000362413.4:p.Val58Ile | |
ENST00000477335.5:n.308G>A | ||
ENST00000491291.1:n.164G>A | ||
NM_000291.3:c.172G>A | NP_000282.1:p.Val58Ile | |
NM_000291.4:c.172G>A MANE Select | NP_000282.1:p.Val58Ile |