HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123665T>A , CM000679.2:g.72123665T>A | GRCh38 |
NC_000017.10:g.70119806T>A , CM000679.1:g.70119806T>A | GRCh37 |
NC_000017.9:g.67631401T>A | NCBI36 |
NG_012490.1:g.7646T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.808T>A MANE Select | ENSP00000245479.2:p.Phe270Ile | |
ENST00000245479.2:c.808T>A | ENSP00000245479.2:p.Phe270Ile | |
NM_000346.3:c.808T>A | NP_000337.1:p.Phe270Ile | |
NM_000346.4:c.808T>A MANE Select | NP_000337.1:p.Phe270Ile |