HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388363T>G , CM000665.2:g.190388363T>G | GRCh38 |
NC_000003.11:g.190106152T>G , CM000665.1:g.190106152T>G | GRCh37 |
NC_000003.10:g.191588846T>G | NCBI36 |
NG_008149.1:g.5312T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.34T>G MANE Select | ENSP00000264734.3:p.Phe12Val | |
ENST00000456423.2:c.34T>G | ENSP00000414136.2:p.Phe12Val | |
ENST00000264734.2:c.244T>G | ENSP00000264734.2:p.Phe82Val | |
ENST00000456423.1:c.244T>G | ENSP00000414136.1:p.Phe82Val | |
ENST00000468220.1:n.306+13760T>G | ||
NM_006580.3:c.244T>G | NP_006571.1:p.Phe82Val | |
NM_001378492.1:c.34T>G | NP_001365421.1:p.Phe12Val | |
NM_001378493.1:c.34T>G | NP_001365422.1:p.Phe12Val | |
NM_006580.4:c.34T>G MANE Select | NP_006571.2:p.Phe12Val |