HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73322746A>T , CM000677.2:g.73322746A>T | GRCh38 |
NC_000015.9:g.73615087A>T , CM000677.1:g.73615087A>T | GRCh37 |
NC_000015.8:g.71402140A>T | NCBI36 |
NG_009063.1:g.51519T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.3347T>A MANE Select | ENSP00000261917.3:p.Phe1116Tyr | |
ENST00000261917.3:c.3347T>A | ENSP00000261917.3:p.Phe1116Tyr | |
NM_005477.2:c.3347T>A | NP_005468.1:p.Phe1116Tyr | |
XM_011521148.1:c.2129T>A | XP_011519450.1:p.Phe710Tyr | |
XM_011521148.2:c.2129T>A | XP_011519450.1:p.Phe710Tyr | |
NM_005477.3:c.3347T>A MANE Select | NP_005468.1:p.Phe1116Tyr |