HGVS | Genome Assembly |
---|---|
NC_000023.11:g.74421965T>A , CM000685.2:g.74421965T>A | GRCh38 |
NC_000023.10:g.73641800T>A , CM000685.1:g.73641800T>A | GRCh37 |
NC_000023.9:g.73558525T>A | NCBI36 |
NG_011641.1:g.5716T>A | |
NG_011641.2:g.5716T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000587091.6:c.328T>A MANE Select | ENSP00000465734.1:p.Cys110Ser | |
ENST00000636771.1:c.74T>A | ||
ENST00000587091.5:c.328T>A | ENSP00000465734.1:p.Cys110Ser | |
NM_006517.4:c.328T>A | NP_006508.2:p.Cys110Ser | |
XM_005262294.1:c.328T>A | XP_005262351.1:p.Cys110Ser | |
XM_011531015.1:c.328T>A | XP_011529317.1:p.Cys110Ser | |
NM_006517.5:c.328T>A MANE Select | NP_006508.2:p.Cys110Ser |