HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94423077T>A , CM000669.2:g.94423077T>A | GRCh38 |
NC_000007.13:g.94052389T>A , CM000669.1:g.94052389T>A | GRCh37 |
NC_000007.12:g.93890325T>A | NCBI36 |
NG_007405.1:g.33517T>A , LRG_2:g.33517T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2524T>A MANE Select | ENSP00000297268.6:p.Phe842Ile | |
ENST00000297268.10:c.2524T>A | ENSP00000297268.6:p.Phe842Ile | |
ENST00000481570.5:n.607T>A | ||
ENST00000497316.5:n.921T>A | ||
ENST00000620463.1:c.2518T>A | ENSP00000477719.1:p.Phe840Ile | |
NM_000089.3:c.2524T>A , LRG_2t1:c.2524T>A | NP_000080.2:p.Phe842Ile | |
NM_000089.4:c.2524T>A MANE Select | NP_000080.2:p.Phe842Ile |