HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612601G>A , CM000679.2:g.41612601G>A | GRCh38 |
NC_000017.10:g.39768853G>A , CM000679.1:g.39768853G>A | GRCh37 |
NC_000017.9:g.37022379G>A | NCBI36 |
NG_008301.1:g.5227C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.88C>T MANE Select | ENSP00000301653.3:p.Arg30Cys | |
ENST00000301653.8:c.88C>T | ENSP00000301653.3:p.Arg30Cys | |
ENST00000588319.1:n.165C>T | ||
ENST00000590990.1:c.88C>T | ENSP00000467105.1:p.Arg30Cys | |
ENST00000593067.1:c.-313+189C>T | ENSP00000467124.1:n.-313+189C>T | |
NM_005557.3:c.88C>T | NP_005548.2:p.Arg30Cys | |
NM_005557.4:c.88C>T MANE Select | NP_005548.2:p.Arg30Cys |