HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43928878T>A , CM000684.2:g.43928878T>A | GRCh38 |
NC_000022.10:g.44324758T>A , CM000684.1:g.44324758T>A | GRCh37 |
NC_000022.9:g.42656091T>A | NCBI36 |
NG_008631.1:g.10140T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.475T>A MANE Select | ENSP00000216180.3:p.Phe159Ile | |
ENST00000216180.7:c.475T>A | ENSP00000216180.3:p.Phe159Ile | |
ENST00000406117.6:c.*107T>A | ENSP00000384668.2:n.*107T>A | |
ENST00000423180.2:c.463T>A | ENSP00000397987.2:p.Phe155Ile | |
ENST00000478713.1:n.509T>A | ||
NM_025225.2:c.475T>A | NP_079501.2:p.Phe159Ile | |
NM_025225.3:c.475T>A MANE Select | NP_079501.2:p.Phe159Ile |