HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23422292G>T , CM000676.2:g.23422292G>T | GRCh38 |
NC_000014.8:g.23891501G>T , CM000676.1:g.23891501G>T | GRCh37 |
NC_000014.7:g.22961341G>T | NCBI36 |
NG_007884.1:g.18370C>A , LRG_384:g.18370C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3133C>A MANE Select | ENSP00000347507.3:p.Arg1045Ser | |
ENST00000355349.3:c.3133C>A | ENSP00000347507.3:p.Arg1045Ser | |
NM_000257.3:c.3133C>A | NP_000248.2:p.Arg1045Ser | |
XR_245686.3:n.3239C>A | ||
XM_017021340.1:c.3133C>A | XP_016876829.1:p.Arg1045Ser | |
NM_000257.4:c.3133C>A MANE Select | NP_000248.2:p.Arg1045Ser |