HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312653T>A , CM000673.2:g.118312653T>A | GRCh38 |
NC_000011.9:g.118183368T>A , CM000673.1:g.118183368T>A | GRCh37 |
NC_000011.8:g.117688578T>A | NCBI36 |
NG_007383.1:g.13074T>A , LRG_38:g.13074T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.139T>A MANE Select | ENSP00000354566.4:p.Leu47Met | |
ENST00000361763.8:c.139T>A | ENSP00000354566.4:p.Leu47Met | |
ENST00000526146.5:n.685T>A | ||
ENST00000528435.5:n.692T>A | ||
ENST00000528600.1:c.121T>A | ENSP00000433975.1:p.Leu41Met | |
ENST00000529713.5:n.245T>A | ||
ENST00000531913.1:n.510T>A | ||
NM_000733.3:c.139T>A , LRG_38t1:c.139T>A | NP_000724.1:p.Leu47Met | |
NM_000733.4:c.139T>A MANE Select | NP_000724.1:p.Leu47Met |