HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99844339T>A , CM000672.2:g.99844339T>A | GRCh38 |
NC_000010.10:g.101604096T>A , CM000672.1:g.101604096T>A | GRCh37 |
NC_000010.9:g.101594086T>A | NCBI36 |
NG_011798.1:g.66634T>A | |
NG_011798.2:g.66742T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3861T>A MANE Select | ENSP00000497274.1:p.Asp1287Glu | |
ENST00000649459.1:n.209T>A | ||
ENST00000370449.8:c.3861T>A | ENSP00000359478.4:p.Asp1287Glu | |
NM_000392.4:c.3861T>A | NP_000383.1:p.Asp1287Glu | |
XM_006717630.2:c.3165T>A | XP_006717693.1:p.Asp1055Glu | |
XR_945604.1:n.4050T>A | ||
XR_945605.1:n.3925T>A | ||
NM_000392.5:c.3861T>A MANE Select | NP_000383.2:p.Asp1287Glu | |
XM_006717630.3:c.3165T>A | XP_006717693.1:p.Asp1055Glu | |
XR_945604.3:n.4104T>A | ||
XR_945605.3:n.3977T>A |