HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733347C>A , CM000684.2:g.37733347C>A | GRCh38 |
NC_000022.10:g.38129354C>A , CM000684.1:g.38129354C>A | GRCh37 |
NC_000022.9:g.36459300C>A | NCBI36 |
NG_012857.1:g.41360C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3997C>A MANE Select | ENSP00000496394.1:p.Gln1333Lys | |
ENST00000344404.10:c.*3480C>A | ENSP00000340312.6:n.*3480C>A | |
ENST00000406386.7:c.3997C>A | ENSP00000384312.3:p.Gln1333Lys | |
NM_001039141.2:c.3997C>A | NP_001034230.1:p.Gln1333Lys | |
XM_011530646.1:c.512-2988G>T | XP_011528948.1:n.512-2988G>T | |
NM_001039141.3:c.3997C>A MANE Select | NP_001034230.1:p.Gln1333Lys |