HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413455C>T , CM000665.2:g.147413455C>T | GRCh38 |
NC_000003.11:g.147131242C>T , CM000665.1:g.147131242C>T | GRCh37 |
NC_000003.10:g.148613932C>T | NCBI36 |
NG_015886.1:g.9062C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282928.5:c.1248C>T MANE Select | ENSP00000282928.4:p.Asn416= | |
ENST00000282928.4:c.1248C>T | ENSP00000282928.4:p.Asn416= | |
ENST00000472523.1:n.521+19513C>T | ||
ENST00000488404.5:c.314C>T | ||
NM_003412.3:c.1248C>T | NP_003403.2:p.Asn416= | |
NM_003412.4:c.1248C>T MANE Select | NP_003403.2:p.Asn416= |