HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733323C= , CM000684.2:g.37733323C= | GRCh38 |
NC_000022.10:g.38129330C= , CM000684.1:g.38129330C= | GRCh37 |
NC_000022.9:g.36459276C= | NCBI36 |
NG_012857.1:g.41336C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3973C= MANE Select | ENSP00000496394.1:p.Gln1325= | |
ENST00000344404.10:c.*3456C= | ENSP00000340312.6:n.*3456C= | |
ENST00000406386.7:c.3973C= | ENSP00000384312.3:p.Gln1325= | |
NM_001039141.2:c.3973C= | NP_001034230.1:p.Gln1325= | |
XM_011530646.1:c.512-2964G= | XP_011528948.1:n.512-2964G= | |
NM_001039141.3:c.3973C= MANE Select | NP_001034230.1:p.Gln1325= |