HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97598902G>T , CM000672.2:g.97598902G>T | GRCh38 |
NC_000010.10:g.99358659G>T , CM000672.1:g.99358659G>T | GRCh37 |
NC_000010.9:g.99348649G>T | NCBI36 |
NG_027922.1:g.19558G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370646.9:c.339G>T MANE Select | ENSP00000359680.4:p.Glu113Asp | |
ENST00000370646.8:c.339G>T | ENSP00000359680.4:p.Glu113Asp | |
ENST00000370647.8:c.212-2955G>T | ENSP00000359681.4:n.212-2955G>T | |
ENST00000370649.3:c.212-2955G>T | ENSP00000359683.3:n.212-2955G>T | |
ENST00000465608.1:n.720G>T | ||
NM_001134670.1:c.212-2955G>T | NP_001128142.1:n.212-2955G>T | |
NM_138413.3:c.339G>T | NP_612422.2:p.Glu113Asp | |
NM_138413.4:c.339G>T MANE Select | NP_612422.2:p.Glu113Asp | |
NM_001134670.2:c.212-2955G>T | NP_001128142.1:n.212-2955G>T |