HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659566T>A , CM000665.2:g.180659566T>A | GRCh38 |
NC_000003.11:g.180377354T>A , CM000665.1:g.180377354T>A | GRCh37 |
NC_000003.10:g.181860048T>A | NCBI36 |
NG_029581.1:g.24930A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.624A>T MANE Select | ENSP00000417960.2:p.Lys208Asn | |
ENST00000650641.1:n.703A>T | ||
ENST00000650889.1:n.796A>T | ||
ENST00000651046.1:c.624A>T | ENSP00000499175.1:p.Lys208Asn | |
ENST00000651818.1:n.766A>T | ||
ENST00000652024.1:n.715A>T | ||
ENST00000652408.1:n.761A>T | ||
ENST00000442201.6:c.624A>T | ENSP00000405708.2:p.Lys208Asn | |
ENST00000476379.5:c.624A>T | ENSP00000417960.1:p.Lys208Asn | |
NM_181426.1:c.624A>T | NP_852091.1:p.Lys208Asn | |
NM_181426.2:c.624A>T MANE Select | NP_852091.1:p.Lys208Asn |