HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63606315A>T , CM000679.2:g.63606315A>T | GRCh38 |
NC_000017.10:g.61683675A>T , CM000679.1:g.61683675A>T | GRCh37 |
NC_000017.9:g.59037407A>T | NCBI36 |
NG_016979.1:g.10445A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682060.1:n.152A>T | ||
ENST00000684587.1:c.387A>T | ENSP00000507435.1:p.Lys129Asn | |
ENST00000690765.1:c.*216A>T | ENSP00000510085.1:n.*216A>T | |
ENST00000258975.7:c.390A>T MANE Select | ENSP00000258975.6:p.Lys130Asn | |
ENST00000258975.6:c.390A>T | ENSP00000258975.6:p.Lys130Asn | |
ENST00000581120.1:n.592A>T | ||
NM_016360.3:c.390A>T | NP_057444.2:p.Lys130Asn | |
NM_016360.4:c.390A>T MANE Select | NP_057444.2:p.Lys130Asn |