HGVS | Genome Assembly |
---|---|
NC_000017.11:g.63606313A>C , CM000679.2:g.63606313A>C | GRCh38 |
NC_000017.10:g.61683673A>C , CM000679.1:g.61683673A>C | GRCh37 |
NC_000017.9:g.59037405A>C | NCBI36 |
NG_016979.1:g.10443A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000682060.1:n.150A>C | ||
ENST00000684587.1:c.385A>C | ENSP00000507435.1:p.Lys129Gln | |
ENST00000690765.1:c.*214A>C | ENSP00000510085.1:n.*214A>C | |
ENST00000258975.7:c.388A>C MANE Select | ENSP00000258975.6:p.Lys130Gln | |
ENST00000258975.6:c.388A>C | ENSP00000258975.6:p.Lys130Gln | |
ENST00000581120.1:n.590A>C | ||
NM_016360.3:c.388A>C | NP_057444.2:p.Lys130Gln | |
NM_016360.4:c.388A>C MANE Select | NP_057444.2:p.Lys130Gln |