HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47283432T>G , CM000679.2:g.47283432T>G | GRCh38 |
NC_000017.10:g.45360798T>G , CM000679.1:g.45360798T>G | GRCh37 |
NC_000017.9:g.42715797T>G | NCBI36 |
NG_008332.2:g.34591T>G , LRG_481:g.34591T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.244T>G | ENSP00000513002.1:p.Phe82Val | |
ENST00000559488.7:c.244T>G MANE Select | ENSP00000452786.2:p.Phe82Val | |
ENST00000559488.5:c.244T>G | ENSP00000452786.1:p.Phe82Val | |
ENST00000560629.1:c.209T>G | ||
ENST00000571680.1:c.244T>G | ENSP00000461626.1:p.Phe82Val | |
NM_000212.2:c.244T>G , LRG_481t1:c.244T>G | NP_000203.2:p.Phe82Val | |
NM_000212.3:c.244T>G MANE Select | NP_000203.2:p.Phe82Val |