HGVS | Genome Assembly |
---|---|
NC_000023.11:g.121048415T>A , CM000685.2:g.121048415T>A | GRCh38 |
NC_000023.10:g.120182269T>A , CM000685.1:g.120182269T>A | GRCh37 |
NC_000023.9:g.120009950T>A | NCBI36 |
NG_016456.1:g.5808T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000328078.3:c.731T>A MANE Select | ENSP00000327589.1:p.Ile244Lys | |
ENST00000328078.2:c.731T>A | ENSP00000327589.1:p.Ile244Lys | |
NM_012084.3:c.731T>A | NP_036216.2:p.Ile244Lys | |
NM_012084.4:c.731T>A MANE Select | NP_036216.2:p.Ile244Lys |