HGVS | Genome Assembly |
---|---|
NC_000007.14:g.39686740G>A , CM000669.2:g.39686740G>A | GRCh38 |
NC_000007.13:g.39726339G>A , CM000669.1:g.39726339G>A | GRCh37 |
NC_000007.12:g.39692864G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000005257.7:c.73G>A MANE Select | ENSP00000005257.2:p.Val25Met | |
ENST00000005257.6:c.73G>A | ENSP00000005257.2:p.Val25Met | |
ENST00000434466.1:c.54G>A | ||
ENST00000436179.1:c.73G>A | ENSP00000388975.1:p.Val25Met | |
ENST00000468201.1:n.262-9945G>A | ||
NM_005402.3:c.73G>A | NP_005393.2:p.Val25Met | |
XM_006715762.2:c.73G>A | XP_006715825.1:p.Val25Met | |
XM_011515466.1:c.73G>A | XP_011513768.1:p.Val25Met | |
XM_006715762.3:c.73G>A | XP_006715825.1:p.Val25Met | |
NM_005402.4:c.73G>A MANE Select | NP_005393.2:p.Val25Met |