HGVS | Genome Assembly |
---|---|
NC_000017.11:g.78426464C>T , CM000679.2:g.78426464C>T | GRCh38 |
NC_000017.10:g.76422545C>T , CM000679.1:g.76422545C>T | GRCh37 |
NC_000017.9:g.73934140C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389840.7:c.12908G>A MANE Select | ENSP00000374490.6:p.Arg4303His | |
ENST00000389840.6:c.12908G>A | ENSP00000374490.6:p.Arg4303His | |
ENST00000585328.5:c.12893G>A | ENSP00000465516.1:p.Arg4298His | |
ENST00000586052.5:n.6069G>A | ||
ENST00000590227.5:n.2582G>A | ||
ENST00000591369.5:c.4510G>A | ||
ENST00000591647.1:n.257G>A | ||
NM_173628.3:c.12908G>A | NP_775899.3:p.Arg4303His | |
XM_011525416.1:c.12920G>A | XP_011523718.1:p.Arg4307His | |
XM_011525418.1:c.6287G>A | XP_011523720.1:p.Arg2096His | |
XM_011525416.2:c.12920G>A | XP_011523718.1:p.Arg4307His | |
XM_017025261.2:c.6254G>A | XP_016880750.1:p.Arg2085His | |
XM_024451013.1:c.12776G>A | XP_024306781.1:p.Arg4259His | |
NM_173628.4:c.12908G>A MANE Select | NP_775899.3:p.Arg4303His |