HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37725669T>A , CM000684.2:g.37725669T>A | GRCh38 |
NC_000022.10:g.38121676T>A , CM000684.1:g.38121676T>A | GRCh37 |
NC_000022.9:g.36451622T>A | NCBI36 |
NG_012857.1:g.33682T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.3113T>A MANE Select | ENSP00000496394.1:p.Phe1038Tyr | |
ENST00000344404.10:c.*2596T>A | ENSP00000340312.6:n.*2596T>A | |
ENST00000406386.7:c.3113T>A | ENSP00000384312.3:p.Phe1038Tyr | |
ENST00000455236.4:c.4070T>A | ENSP00000477208.1:n.4070T>A | |
ENST00000492485.5:n.3047T>A | ||
NM_001039141.2:c.3113T>A | NP_001034230.1:p.Phe1038Tyr | |
NM_001039141.3:c.3113T>A MANE Select | NP_001034230.1:p.Phe1038Tyr |