HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123680A>G , CM000679.2:g.72123680A>G | GRCh38 |
NC_000017.10:g.70119821A>G , CM000679.1:g.70119821A>G | GRCh37 |
NC_000017.9:g.67631416A>G | NCBI36 |
NG_012490.1:g.7661A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.823A>G MANE Select | ENSP00000245479.2:p.Ile275Val | |
ENST00000245479.2:c.823A>G | ENSP00000245479.2:p.Ile275Val | |
NM_000346.3:c.823A>G | NP_000337.1:p.Ile275Val | |
NM_000346.4:c.823A>G MANE Select | NP_000337.1:p.Ile275Val |