HGVS | Genome Assembly |
---|---|
NC_000001.11:g.179085780G>A , CM000663.2:g.179085780G>A | GRCh38 |
NC_000001.10:g.179054915G>A , CM000663.1:g.179054915G>A | GRCh37 |
NC_000001.9:g.177321538G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367627.8:c.526G>A MANE Select | ENSP00000356599.3:p.Val176Met | |
ENST00000352445.10:c.526G>A | ENSP00000335351.6:p.Val176Met | |
ENST00000367625.8:c.385G>A | ENSP00000356597.4:p.Val129Met | |
ENST00000367627.7:c.526G>A | ENSP00000356599.3:p.Val176Met | |
ENST00000447595.1:c.202G>A | ENSP00000410195.1:p.Val68Met | |
ENST00000472001.1:n.322-2131G>A | ||
ENST00000483887.1:c.*453G>A | ENSP00000435744.1:n.*453G>A | |
NM_022371.3:c.526G>A | NP_071766.2:p.Val176Met | |
NM_022371.4:c.526G>A MANE Select | NP_071766.2:p.Val176Met |