HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413451A>C , CM000665.2:g.147413451A>C | GRCh38 |
NC_000003.11:g.147131238A>C , CM000665.1:g.147131238A>C | GRCh37 |
NC_000003.10:g.148613928A>C | NCBI36 |
NG_015886.1:g.9058A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1244A>C MANE Select | ENSP00000282928.4:p.Asp415Ala | |
ENST00000282928.4:c.1244A>C | ENSP00000282928.4:p.Asp415Ala | |
ENST00000472523.1:n.521+19509A>C | ||
ENST00000488404.5:c.310A>C | ||
NM_003412.3:c.1244A>C | NP_003403.2:p.Asp415Ala | |
NM_003412.4:c.1244A>C MANE Select | NP_003403.2:p.Asp415Ala |