HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413465A>C , CM000665.2:g.147413465A>C | GRCh38 |
NC_000003.11:g.147131252A>C , CM000665.1:g.147131252A>C | GRCh37 |
NC_000003.10:g.148613942A>C | NCBI36 |
NG_015886.1:g.9072A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1258A>C MANE Select | ENSP00000282928.4:p.Ser420Arg | |
ENST00000282928.4:c.1258A>C | ENSP00000282928.4:p.Ser420Arg | |
ENST00000472523.1:n.521+19523A>C | ||
ENST00000488404.5:c.324A>C | ||
NM_003412.3:c.1258A>C | NP_003403.2:p.Ser420Arg | |
NM_003412.4:c.1258A>C MANE Select | NP_003403.2:p.Ser420Arg |