HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413387T>C , CM000665.2:g.147413387T>C | GRCh38 |
NC_000003.11:g.147131174T>C , CM000665.1:g.147131174T>C | GRCh37 |
NC_000003.10:g.148613864T>C | NCBI36 |
NG_015886.1:g.8994T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1180T>C MANE Select | ENSP00000282928.4:p.Ser394Pro | |
ENST00000282928.4:c.1180T>C | ENSP00000282928.4:p.Ser394Pro | |
ENST00000472523.1:n.521+19445T>C | ||
ENST00000488404.5:c.246T>C | ||
NM_003412.3:c.1180T>C | NP_003403.2:p.Ser394Pro | |
NM_003412.4:c.1180T>C MANE Select | NP_003403.2:p.Ser394Pro |