HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42544221G>A , CM000679.2:g.42544221G>A | GRCh38 |
NC_000017.10:g.40696239G>A , CM000679.1:g.40696239G>A | GRCh37 |
NC_000017.9:g.37949765G>A | NCBI36 |
NG_011552.1:g.13289G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225927.7:c.2215G>A MANE Select | ENSP00000225927.1:p.Val739Met | |
ENST00000225927.6:c.2215G>A | ENSP00000225927.1:p.Val739Met | |
NM_000263.3:c.2215G>A | NP_000254.2:p.Val739Met | |
XM_006721920.2:c.1384G>A | XP_006721983.1:p.Val462Met | |
XM_011524840.1:c.1216G>A | XP_011523142.1:p.Val406Met | |
XM_017024687.1:c.1384G>A | XP_016880176.1:p.Val462Met | |
XM_024450771.1:c.2272G>A | XP_024306539.1:p.Val758Met | |
XM_024450772.1:c.1216G>A | XP_024306540.1:p.Val406Met | |
NM_000263.4:c.2215G>A MANE Select | NP_000254.2:p.Val739Met |